AutoICD API

F78.A9

Billable

Other genetic related intellectual disability

Other genetic related intellectual disability

Status

Billable / Specific

Block

F70-F79

Parent Code

F78.A

Coding Notes

Includes

Conditions included under this code

  • disorders of psychological development

Excludes 1

Codes that cannot be used together with this code (mutual exclusion)

Excludes 2

Conditions not included here, but the patient may have both

Code First

The underlying condition must be sequenced before this code

  • any associated physical or developmental disorders

Code Also

A second code may be required; sequencing depends on circumstances

  • , if applicable, any associated disorders
Related Codes(1)
F78.A1

SYNGAP1-related intellectual disability

Billable
Also Known As / Clinical Terms(1795)

SNOMED CT

UMLS

Clinical Terms

  • Rud's syndrome
  • Hyperkinesia
  • Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome
  • Genetic syndromes of diabetes mellitus
  • Intellectual disability, spasticity, ectrodactyly syndrome
  • HAFOUS - Hao Fountain syndrome
  • Weakness of both lower limbs
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome
  • Baraitser Brett Piesowicz syndrome
  • X-linked intellectual disability Snyder type
  • Exognathia
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
  • QRICH1-related intellectual disability, chondrodysplasia syndrome
  • X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations
  • AVP-D - arginine vasopressin deficiency
  • H1-4-related neurodevelopmental disorder
  • X-linked intellectual disability Seemanova type
  • Epilepsy, mental deterioration and yellow teeth
  • Primrose syndrome
  • Tranebjaerg Svejgaard syndrome
  • Congenital atresia of external auditory canal
  • Chung Jansen syndrome
  • X-linked mental retardation with marfanoid habitus syndrome
  • Intellectual disability, cataract, calcified pinna, myopathy syndrome
  • Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome
  • Keppen Lubinsky syndrome
  • Total lipoatrophy
  • Aproctia
  • Blue nevus of skin
  • Sohval Soffer syndrome
  • Short fourth metatarsal
  • Snijders Blok-Campeau syndrome
  • Aural atresia with multiple congenital anomalies and intellectual disability syndrome
  • RAB18, member RAS oncogene family deficiency
  • Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome
  • Essential tremor
  • X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
  • Methyl-CpG binding protein 2 related disorder
  • Ververi Brady syndrome
  • Idiopathic Parkinsonism
  • Congenital total lipodystrophy
  • Developmental delay, short stature, dysmorphic features, sparse hair syndrome
  • Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
  • Congenital malformation of angle of anterior chamber of eye
  • PCDH19 clustering epilepsy
  • Alpha thalassemia intellectual disability syndrome, deletion type
  • Congenital aniridia
  • TELO2-related intellectual disability, neurodevelopmental disorder
  • Dominant hereditary optic atrophy
  • Ventricular myocardial noncompaction cardiomyopathy
  • Bosch Boonstra Schaaf optic atrophy syndrome
  • Expressive dysphasia
  • MEDNIK syndrome
  • Aplastic anemia, intellectual disability, dwarfism syndrome
  • X-linked intellectual disability Ahmad type
  • Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
  • Oliver syndrome
  • Congenital hypotrichosis
  • AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
  • Maxillary prognathism
  • Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
  • Congenital generalized lipodystrophy
  • Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome
  • Hereditary persistence of fetal hemoglobin
  • Blepharophimosis, intellectual disability syndrome, Verloes type
  • Juvenile cataract
  • Laryngeal abductor paralysis with intellectual disability syndrome
  • MYT1L-related developmental delay, intellectual disability, obesity syndrome
  • CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
  • Microcephaly, thin corpus callosum, intellectual disability syndrome
  • Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome
  • Progenia
  • Salih ataxia
  • Universal alopecia areata
  • Alopecia, epilepsy, intellectual disability syndrome Moynahan type
  • Autosomal recessive spinocerebellar ataxia type 15
  • Congenital keratoderma
  • X-linked epilepsy with learning disability and behavior disorder syndrome
  • Birk Barel mental retardation dysmorphism syndrome
  • Talipes plantaris
  • Deafness and intellectual disability Martin Probst type syndrome
  • SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
  • Optic atrophy, intellectual disability syndrome
  • Zunich Kaye syndrome
  • Developmental anomaly of periodontal tissue
  • Waisman syndrome
  • Lujan-Fryns syndrome
  • Scott Bryant Graham syndrome
  • Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
  • Snijders Blok-Fisher syndrome
  • GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
  • Da Silva syndrome
  • MMR (megalocornea, mental retardation) syndrome
  • Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
  • Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
  • Spastic quadriparesis
  • Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
  • Carbohydrate deficient glycoprotein syndrome type 1u
  • Johnson syndrome
  • BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome
  • MECP2 duplication syndrome
  • Hyperphosphatasemia with intellectual disability
  • Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
  • X-linked intellectual disability with plagiocephaly syndrome
  • Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
  • Microcephaly with deafness and intellectual disability syndrome
  • Abnormally short fourth metatarsal
  • Bone age finding
  • Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
  • Alpha thalassemia X-linked intellectual disability syndrome
  • PD - Parkinson's disease
  • X-linked intellectual disability with seizure and psoriasis syndrome
  • Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
  • BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
  • Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome
  • SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
  • Raynaud Claes syndrome
  • Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
  • Carpenter Waziri syndrome
  • Arginine vasopressin deficiency
  • X-linked intellectual disability Cilliers type
  • Brittle hair-impaired intellect-decreased fertility-short stature syndrome
  • SINO syndrome
  • Alpha thalassaemia X-linked intellectual deficit
  • PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
  • Mutchinick syndrome
  • Paresis of left lower extremity
  • X-linked intellectual disability Stoll type
  • X-linked intellectual disability with acromegaly and hyperactivity syndrome
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome
  • Blepharophimosis, intellectual disability syndrome type V
  • CIMDAG syndrome
  • Oculomotor nerve finding
  • Erythrokeratodermia variabilis Kamouraska type
  • Colobomatous microphthalmia
  • Congenital anomaly of angle of anterior chamber of eye
  • Congenital coloboma of iris
  • Hirschsprung disease-mental retardation syndrome
  • Oligohidrosis
  • Rud syndrome
  • PADDAS syndrome
  • PDE4D haploinsufficiency syndrome
  • MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome
  • Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency
  • Marfanoid habitus with autosomal recessive intellectual disability syndrome
  • Abnormal blue sclerae
  • Thumb stiffness, brachydactyly, intellectual disability syndrome
  • Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
  • Weakness of right upper limb
  • CAHMR (cataract, hypertrichosis, mental retardation) syndrome
  • Hypotrichosis and intellectual disability syndrome Lopes type
  • Triad syndrome
  • X-linked intellectual disability Shrimpton type
  • Lamellar ichthyosis
  • Preaxial polydactyly, colobomata, intellectual disability syndrome
  • Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
  • Tetraparesis
  • BRESEK syndrome
  • Liberfarb syndrome
  • Maxillary jaw size anomaly
  • Mowat-Wilson syndrome due to del(2)q(22)
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
  • Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome
  • GNB5-related intellectual disability, cardiac arrhythmia syndrome
  • Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
  • GRIN2A-DEE - GRIN2A developmental and epileptic encephalopathy
  • MRAMS syndrome
  • Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
  • Long face syndrome
  • Fryns Smeets Thiry syndrome
  • Hemispheric cerebral hypoplasia
  • Intellectual disability, developmental delay, contracture syndrome
  • Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
  • Blue naevus of skin
  • Calcification of pinna
  • Prune belly syndrome
  • Hyperkinesis
  • Mowat-Wilson syndrome due to monosomy 2q22
  • Pes cavus
  • DOORS syndrome
  • Aplastic anaemia, intellectual disability, dwarfism syndrome
  • Tall stature, intellectual disability, renal anomalies syndrome
  • DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome
  • X-linked intellectual disability, craniofacioskeletal syndrome
  • Partington-Mulley syndrome
  • Seizures and intellectual disability due to hydroxylysinuria
  • Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder
  • X-linked intellectual disability Schimke type
  • Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
  • Android fat distribution
  • Fat body with thin limbs
  • Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation
  • Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
  • Intellectual disability associated with fragile site FRAXE
  • Non-progressive cerebellar ataxia with intellectual disability
  • X-linked intellectual disability with marfanoid habitus
  • Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
  • HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) related intellectual disability
  • Richieri Costa-da Silva syndrome
  • Congenital hypoplasia of cerebral hemisphere
  • HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
  • Bilateral weakness of legs
  • Partington X-linked intellectual disability syndrome
  • Prune belly syndrome with pulmonic stenosis, mental retardation and deafness
  • Third cranial nerve finding
  • X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
  • Jagell, Holmgren, Hofer syndrome
  • FRAXE intellectual disability syndrome
  • PPP2R5D-related intellectual disability
  • Intellectual disability Birk-Barel type
  • Epilepsy, dementia and amelogenesis imperfecta
  • SCAR15 - autosomal recessive spinocerebellar ataxia type 15
  • X-linked intellectual disability Cabezas type
  • Cortical blindness
  • Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
  • Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
  • Congenital anomaly of aortic arch AND/OR descending aorta
  • Cranial diabetes insipidus
  • KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome
  • Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
  • GMS syndrome
  • Lipoatrophic diabetes mellitus
  • Lateral curvatures of skull unequal
  • Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
  • Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
  • Martsolf syndrome
  • Kaler Garrity Stern syndrome
  • Hereditary elliptocytosis
  • HPFH - Hereditary persistence of fetal hemoglobin
  • Seip's syndrome
  • Karandikar Maria Kamble syndrome
  • Familial psoriasis
  • Arboleda Tham syndrome
  • Cleft iris
  • Pitt-Hopkins syndrome
  • Hyperactive behaviour
  • Complex neurodevelopmental disorder
  • Hypoplastic anemia - familial
  • Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder
  • Congenital elliptocytosis
  • Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
  • FHEIG syndrome
  • X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
  • Cleft palate, congenital heart defect, intellectual disability syndrome
  • Microphthalmia with ankyloblepharon and intellectual disability syndrome
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency
  • Left ventricular myocardial noncompaction cardiomyopathy
  • Urban Rogers Meyer syndrome
  • Hereditary persistence of foetal haemoglobin
  • Lysine and hydroxylysine metabolism disorder
  • Vasopressin deficiency
  • Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
  • Intellectual disability, hypotonia, facial dysmorphism syndrome
  • RAB18 deficiency
  • Proximal Xq28 duplication syndrome
  • PIBIDS syndrome, photosensitivity with IBIDS
  • Paresis of left lower limb
  • Perniola Krajewska Carnevale syndrome
  • Lawrence-Seip syndrome
  • Blepharosynechia
  • Leber's amaurosis
  • Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
  • Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome
  • X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
  • X-linked Angelman-like syndrome
  • Syndromic X-linked intellectual disability due to JARID1C mutation
  • TBC1 domain containing kinase-related intellectual disability syndrome
  • Gerhardt syndrome
  • TBCK-related intellectual disability syndrome
  • Brachymetatarsia of 4th metatarsal
  • Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
  • Talipes cavus
  • Neurohypophyseal diabetes insipidus
  • Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
  • Big jaw
  • Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
  • Phosphodiesterase 4D haploinsufficiency syndrome
  • Congenital cataract with hypertrichosis and intellectual disability syndrome
  • Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation
  • Epidermal growth factor-related primary hypomagnesemia with intellectual disability
  • Kohlschutter syndrome
  • Wiedemann Steiner syndrome
  • Lindsay Burn syndrome
  • X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
  • Quadriparesis
  • Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
  • AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome
  • Neuhäuser syndrome
  • X-linked intellectual disability Shashi type
  • Acromegalia
  • X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
  • X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
  • Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome
  • MEHMO syndrome
  • X-linked intellectual disability with cerebellar hypoplasia syndrome
  • Shaheen syndrome
  • CHIME syndrome
  • Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
  • Mongolian macula
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy
  • Deafness with onychodystrophy syndrome
  • Congenital prognathism
  • Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
  • Blue sclera
  • Congenital anomaly of the meninges
  • Mass of preauricular region
  • MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
  • X-linked intellectual disability with ataxia and apraxia syndrome
  • Hyperactive behavior
  • Hypoplasia of corpus callosum
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome
  • Early-onset epilepsy, intellectual disability, brain anomalies syndrome
  • Subpulmonic stenosis, ventricular septal defect, overriding aorta, AND right ventricular hypertrophy
  • Congenital malformation of angle
  • Epidermal growth factor-related primary hypomagnesaemia with intellectual disability
  • Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome
  • Rare non-syndromic intellectual disability
  • HE - hereditary elliptocytosis
  • Hereditary AVP (arginine vasopressin)-related polyuria
  • Weakness of left lower limb
  • Congenital generalized hypertrichosis
  • Hirschsprung disease and intellectual disability due to 2q22 microdeletion
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • Craniodigital syndrome and intellectual disability syndrome
  • EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
  • Amelocerebrohypohidrotic syndrome
  • Congenital atresia of anus
  • Intellectual disability, alacrima, achalasia syndrome
  • Paresis of right lower extremity
  • Uveal coloboma with cleft lip and palate and intellectual disability syndrome
  • Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome
  • Congenital nephritis
  • Mongolian blue spot
  • Congenital hypoplasia of cerebral white matter
  • CAHMR syndrome
  • Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome
  • MINDS syndrome
  • Pachygyria
  • Constitutional aplastic anemia
  • Congenital intrauterine infection-like syndrome
  • X-linked intellectual disability, short stature, overweight syndrome
  • TANGO2-related metabolic encephalopathy, arrhythmia syndrome
  • Early onset Parkinson's disease
  • X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females
  • Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
  • Bilateral band-like calcification with polymicrogyria
  • Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome
  • Bindewald Ulmer Muller syndrome
  • Persistent right aortic arch
  • Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
  • Congenital hypotrichia
  • Marie disease
  • Hyperphosphatasaemia with intellectual disability
  • MASA syndrome
  • Fragile X chromosome
  • Protocadherin 19 clustering epilepsy
  • Body height below reference range
  • Congenital retinal blindness
  • Epileptic encephalopathy
  • HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
  • MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome
  • X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
  • DHX30-related neurodevelopmental disorder
  • Retarded bone age
  • SCAR20 - autosomal recessive spinocerebellar ataxia type 20
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
  • Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
  • SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome
  • PPM-X syndrome
  • Seizures and intellectual disability due to hydroxylysinuria syndrome
  • Centripetal obesity
  • KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome
  • Smith Kingsmore syndrome
  • Rahman syndrome
  • Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
  • Congenital anomaly of subcutaneous tissue
  • BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome
  • Crowding of teeth
  • ACD (alopecia, contracture, dwarfism) syndrome
  • SCAR5 - spinocerebellar ataxia autosomal recessive 5
  • Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder
  • Goniodysgenesis
  • Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
  • Weakness of both lower extremities
  • Clawfoot
  • Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
  • SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
  • Myotonia, intellectual disability, skeletal anomalies syndrome
  • Intellectual disability, expressive aphasia, facial dysmorphism syndrome
  • Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome
  • X-linked intellectual disability Van Esch type
  • KBG syndrome
  • Congenital imperforate anus
  • Hereditary persistence of fetal haemoglobin
  • Irideremia
  • EGF-related primary hypomagnesemia with intellectual disability
  • Leber congenital amaurosis
  • Reardon Baraitser syndrome
  • Congenital hypoplasia of male external genitalia
  • Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
  • Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
  • Congenital ankyloblepharon
  • Fused eyelids
  • Alpha thalassaemia intellectual disability syndrome, deletion type
  • Foot contracture, muscle atrophy, oculomotor apraxia syndrome
  • Diets Jongmans syndrome
  • Mesomelic dysplasia, digital anomalies, intellectual disability syndrome
  • Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
  • Congenital laryngeal abductor palsy
  • Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness
  • Weakness of right lower limb
  • Graham Cox syndrome
  • Congenital hypoplasia of penis
  • Congenital hypoplasia of ulna
  • Congenital generalised hypertrichosis
  • Blue sacral spot
  • Kohlschütter Tönz syndrome
  • Periodontitis co-occurrent with genetic disorder
  • Goniodysgenesis with intellectual disability and short stature syndrome
  • Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
  • Webbed neck
  • Atkin Flaitz syndrome
  • Spondyloepiphyseal dysplasia Nishimura type
  • Congenital disorder of glycosylation due to PIGT deficiency
  • X-linked sensorineural hearing loss
  • Neurogenic diabetes insipidus
  • X-linked intellectual disability Cantagrel type
  • Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
  • Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
  • Hyde Forster McCarthy Berry syndrome
  • Prader Willi habitus with osteopenia and camptodactyly
  • Congenital osteodystrophy
  • X-linked intellectual disability hypotonic face syndrome
  • Anterior pituitary adenoma syndrome
  • X-linked intellectual deficit, Najm type
  • Early onset parkinsonism and intellectual disability syndrome
  • Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
  • X-linked intellectual disability Stocco Dos Santos type
  • Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome
  • Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency
  • Spastic quadriplegia, retinitis pigmentosa, intellectual disability syndrome
  • Partington syndrome
  • Pinnal calcification
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
  • Mowat-Wilson syndrome
  • Slow to talk
  • Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome
  • X-linked epilepsy with learning disability and behaviour disorder syndrome
  • Early onset Parkinson disease
  • Congenital malformation of anterior pituitary
  • X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency
  • Intellectual disability, epilepsy, bulbous nose syndrome
  • Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder
  • Retinitis pigmentosa, deafness, mental retardation, hypogonadism syndrome
  • X-linked intellectual disability Miles-Carpenter type
  • Genetic intellectual disability
  • X-linked deafness and intellectual disability syndrome
  • Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
  • Calderón González Cantu syndrome
  • Localized junctional epidermolysis bullosa
  • PTHS - Pitt-Hopkins syndrome
  • Intellectual disability with strabismus syndrome
  • Ankyloblepharon
  • Congenital abnormality of sclera
  • Calcium/calmodulin-dependent serine protein kinase related intellectual disability
  • Diabetes insipidus - pituitary
  • Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
  • Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
  • Juberg-Hellman syndrome
  • Marfanoid physique
  • Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency
  • Postaxial polydactyly and intellectual disability syndrome
  • Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
  • Kuzniecky syndrome
  • Megalocornea with intellectual disability syndrome
  • X-linked intellectual disability Stevenson type
  • PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
  • Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
  • Chudley Rozdilsky syndrome
  • Congenital anomaly of anterior pituitary
  • Atresia ani
  • HPFH - Hereditary persistence of fetal haemoglobin
  • Piussan Lenaerts Mathieu syndrome
  • Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
  • Intellectual disability, myopathy, short stature, endocrine defect syndrome
  • Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
  • Mabry syndrome
  • Weakness of left upper limb
  • MGCN - Megalocornea
  • X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
  • Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
  • Lopes Marques de Faria syndrome
  • Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
  • CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
  • Hypoplasia of penis
  • HPFH - Hereditary persistence of foetal haemoglobin
  • Passwell Goodman Siprkowski syndrome
  • X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
  • Clark Baraitser syndrome
  • Aniridia
  • HA - Hyperactivity
  • Developmental malformation of branchial arch
  • Fitzsimmons McLachlan Gilbert syndrome
  • Macrogyria
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
  • Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome
  • Open bite
  • Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
  • Congenital disorder of glycosylation type 1u
  • Congenital hypoplasia of bone of radius and/or ulna
  • Alopecia and intellectual disability syndrome
  • Ataxia with deafness and intellectual disability syndrome
  • Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
  • Micropenis
  • HPDL-related Leigh-like encephalopathy
  • Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
  • Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
  • Ankyloblepharon totale
  • Obesity of face and trunk, sparing limbs
  • X-linked spasticity, intellectual disability, epilepsy syndrome
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
  • Berardinelli's syndrome
  • Congenital webbing of neck
  • Neck webbing
  • Disorder of lysine and hydroxylysine metabolism
  • Sifrim Hitz Weiss syndrome
  • CHD4-related neurodevelopmental disorder
  • Congenital hypoplasia of ulna and intellectual disability syndrome
  • Deletion of part of short arm of chromosome 16
  • Holmes Gang syndrome
  • Hereditary essential tremor
  • Hypotrichosis congenita
  • Autosomal recessive spinocerebellar ataxia type 12
  • Female restricted epilepsy with intellectual disability syndrome
  • Non-specific syndromic intellectual disability
  • PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency
  • Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
  • Congenital cubitus valgus
  • Khalifa Graham syndrome
  • Congenital generalised lipodystrophy
  • Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
  • Loucks Innes syndrome
  • SCA47 - spinocerebellar ataxia type 47
  • Young Hughes syndrome
  • Berardinelli-Seip congenital lipodystrophy
  • Kohlschutter's syndrome
  • Idiopathic Parkinson's disease
  • Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome
  • Macrocephaly and developmental delay syndrome
  • MYT1L-related Prader-Willi-like syndrome
  • Delayed bone age
  • Hirschsprung disease and intellectual disability due to del(2)(q22)
  • PUM1-associated developmental disability, ataxia, seizure syndrome
  • MOMO syndrome
  • Congenital malformation of the meninges
  • Irideraemia
  • Prognathism
  • X-linked intellectual disability Nascimento type
  • Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency
  • Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
  • X-linked intellectual disability Hedera type
  • Hair defect with photosensitivity and intellectual disability syndrome
  • Cornea enlarged
  • Young onset Parkinson disease
  • Pilarowski Bjornsson syndrome
  • Thauvin Robinet Faivre syndrome
  • Devriendt Vandenberghe Fryns syndrome
  • Hao Fountain syndrome
  • Dentinogenesis imperfecta
  • Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
  • STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • Smith Fineman Myers syndrome
  • X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
  • Martin Probst syndrome
  • Ambiguous genitalia
  • Lipodystrophy, intellectual disability, deafness syndrome
  • Trichothiodystrophy
  • Growth delay, intellectual disability, hepatopathy syndrome
  • Notched iris
  • Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
  • Growth hormone hypersecretion syndrome
  • Congenital muscular dystrophy with intellectual disability
  • Oligophrenin-1 syndrome
  • Hereditary arginine vasopressin-related polyuria
  • Cortical blindness, intellectual disability, polydactyly syndrome
  • Severe X-linked intellectual disability Gustavson type
  • Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • Syndromic X-linked intellectual disability type 11
  • Mongolian spot
  • X-linked intellectual disability Atkin type
  • Weakness of right arm
  • Skeletal dysplasia with intellectual disability syndrome
  • Dias Logan syndrome
  • X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
  • SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
  • Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
  • Alopecia universalis
  • X-linked intellectual disability Abidi type
  • Spastic tetraparesis
  • Macroencephaly
  • Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
  • Hereditary vasopressin-related polyuria
  • X-linked mental retardation Reish type
  • Aplasia of iris
  • Spastic paraplegia, glaucoma, intellectual disability syndrome
  • Fallot's tetralogy
  • Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome
  • MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome
  • X-linked intellectual disability Pai type
  • Pituitary diabetes insipidus
  • Anterior maxillary protrusion, strabismus, intellectual disability syndrome
  • Hyperphosphatasia with seizures and neurologic deficit
  • Atresia of external auditory canal
  • Diabetes, hypogonadism, deafness, intellectual disability syndrome
  • Parkinson's disease
  • Pfeiffer Mayer syndrome
  • Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome
  • Weakness of bilateral lower limb
  • Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
  • Macrocephaly, intellectual disability, left ventricular non compaction syndrome
  • Ulna hypoplasia with intellectual disability syndrome
  • Intellectual disability, cupped ears syndrome
  • Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
  • X-linked intellectual disability Armfield type
  • Rajab Spranger syndrome
  • Intellectual disability, loss of expressive language, facial dysmorphism syndrome
  • CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
  • Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome
  • Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
  • Intellectual disability, early-onset cataract, microcephaly syndrome
  • Hypohydrosis
  • Intellectual disability and short stature with hand contracture and genital anomaly syndrome
  • Pterygium colli with intellectual disability and digital anomaly syndrome
  • X-linked intellectual disability Wilson type
  • Moynahan syndrome
  • Syndromic microphthalmia type 4
  • Lubs X-linked mental retardation syndrome
  • SCAR23 - spinocerebellar ataxia autosomal recessive type 23
  • CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
  • Aniridia and intellectual disability syndrome
  • Autosomal recessive deafness onychodystrophy syndrome
  • Congenital megalocornea
  • Congenital aplastic anaemia
  • Localised junctional epidermolysis bullosa
  • Hypohidrosis
  • Megalencephaly
  • Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
  • Hereditary persistence of fetal haemoglobin, intellectual disability syndrome
  • Right aortic arch
  • ATR-16 syndrome
  • Skraban Deardorff syndrome
  • X-linked intellectual disability due to GRIA3 mutations
  • Hirschsprung disease-intellectual disability syndrome
  • Pachygyria, intellectual disability, epilepsy syndrome
  • BIDS syndrome
  • Hypospadias and intellectual disability syndrome Goldblatt type
  • OPHN1 syndrome
  • X-linked intellectual disability Miles Carpenter type
  • Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres
  • ACD (alopecia, contracture, dwarfism) mental retardation syndrome
  • Parkinson disease
  • Lambert syndrome
  • X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
  • Intellectual disability, facial dysmorphism, hand anomalies syndrome
  • Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
  • Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
  • CASK - Calcium/calmodulin-dependent serine protein kinase related intellectual disability
  • Asymmetric head
  • Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation
  • Hypoplastic anaemia - familial
  • Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
  • Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
  • Hb F disease
  • Laxova Opitz syndrome
  • Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome
  • STH hypersecretion syndrome
  • MECP2 related disorder
  • Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy
  • Vertical excess of facial skeleton
  • MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome
  • Collodion baby
  • Increased purposeful goal-directed activity
  • Muscle weakness of all four limbs
  • EE - epileptic encephalopathy
  • Autosomal dominant optic atrophy
  • Plott syndrome
  • Neuroectodermal dysplasia CHIME type
  • CASK related intellectual disability
  • Acromegaly
  • Longitudinal deficiency of metatarsal bone
  • Congenital hypoplasia of external genitalia
  • Truncal obesity
  • Hernandez Aguirre Negrete syndrome
  • Lubs X-linked intellectual disability syndrome
  • Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
  • ANK3-related intellectual disability, sleep disturbance syndrome
  • Dextrotransposition of aorta
  • Retinal dystrophy, juvenile cataract, short stature syndrome
  • Congenital atrophy of optic nerve
  • Contracted foot
  • Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
  • Congenital absence of abdominal muscle
  • Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation
  • Speech delay
  • Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome
  • Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
  • CDK13-related disorder
  • Marfanoid habitus, intellectual disability autosomal recessive
  • Brachymetatarsia of fourth metatarsal
  • Alpha thalassemia X-linked intellectual deficit
  • Aniridia, ptosis, intellectual disability, familial obesity syndrome
  • Congenital macrocornea
  • Microphthalmia with colobomatous cyst
  • Primary failure of the testes
  • Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
  • CHD4-related neurodevelopmental syndrome
  • Congenital absence of iris
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
  • X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
  • AMME complex
  • Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
  • Central obesity
  • Vertical maxillary excess
  • Diabetes mellitus associated with genetic syndrome
  • ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis
  • Poretti Boltshauser syndrome
  • Shaking palsy
  • Christianson syndrome
  • Cooper Jabs syndrome
  • Agenesis of iris
  • MECP2 (methyl-cytosine phosphate guanine binding protein-2) disorder
  • Primary Parkinsonism
  • Snyder-Robinson syndrome
  • SHILCA syndrome
  • X-linked mental retardation, syndromic 13
  • EGF-related primary hypomagnesaemia with intellectual disability
  • CRB - Congenital retinal blindness
  • MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome
  • Wieacker Wolff syndrome
  • Microcephaly, intracranial calcification, intellectual disability syndrome
  • AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome
  • Westerhof Beemer Cormane syndrome
  • Expressive aphasia
  • CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome
  • Hereditary ovalocytosis
  • Beradinelli-Seip syndrome
  • Baralle Macken syndrome
  • Fallot complex with intellectual disability and growth delay syndrome
  • Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
  • Lanugo
  • Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome
  • AMeD syndrome
  • HIVEP2-related intellectual disability
  • Armfield syndrome
  • Congenital laryngeal abductor paralysis
  • Ankyrin 3 related intellectual disability, sleep disturbance syndrome
  • Hyperphosphatasemia with mental retardation
  • Osteopenia, intellectual disability, sparse hair syndrome
  • X-linked intellectual disability, microcephaly, testicular failure syndrome
  • Jancar syndrome
  • MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome
  • Congenital anomaly of lacrimal gland
  • DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
  • MORM syndrome
  • X-linked intellectual disability, hypotonia, movement disorder syndrome
  • SESAME syndrome
  • Autosomal recessive spinocerebellar ataxia type 20
  • Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • Congenital short ulna
  • Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
  • Spastic tetraplegia
  • Enlarged cornea
  • Other genetic related intellectual disabilities
  • Hirschsprung disease and intellectual disability due to monosomy 2q22
  • X-linked intellectual developmental disorder Christianson type
  • Amish brittle hair syndrome
  • Hereditary persistence of fetal hemoglobin, intellectual disability syndrome
  • Imbrication of teeth
  • Branchial dysplasia, intellectual disability, inguinal hernia syndrome
  • CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome
  • Non-fluent dysphasia
  • DOOR syndrome
  • SMARCA2-related blepharophimosis, intellectual disability syndrome
  • Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
  • Hereditary persistence of foetal haemoglobin, intellectual disability syndrome
  • Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
  • Prieto Badia Mulas syndrome
  • Hereditary opalescent dentin
  • Imperforate anus
  • MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome
  • X-linked intellectual disability, macrocephaly, macroorchidism syndrome
  • Shokeir syndrome
  • weakness of left arm
  • AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • X-linked intellectual disability-psychosis-macroorchidism syndrome
  • Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  • Pseudo-TORCH syndrome
  • Weakness of both legs
  • Macrocephaly, intellectual disability, autism syndrome
  • Xia Gibbs syndrome
  • Prognathia
  • Methyl-cytosine phosphate guanine binding protein-2 related disorder
  • Alacrima
  • Christian syndrome
  • X-linked intellectual deficit-dystonia-dysarthria syndrome
  • Non-fluent aphasia
  • Scott craniodigital syndrome
  • Alpha thalassaemia X-linked intellectual disability syndrome
  • Goniodysgenesis with mental deficiency and short stature
  • Tetralogy of Fallot
  • ELOVL4-related neuro ichthyosis
  • STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  • Periodontitis associated with genetic disorder
  • TOF - Tetralogy of Fallot
  • GRIN2A developmental and epileptic encephalopathy
  • Weakness of left leg
  • You Hoover Fong syndrome
  • SCARF syndrome
  • Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
  • Erythrokeratodermia variabilis 3
  • CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome
  • DYRK1A syndrome
  • MOMES syndrome
  • Cabezas syndrome
  • Paresis of right lower limb
  • Bilateral hearing loss
  • Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome
  • L1 syndrome
  • Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
  • Mowat-Wilson syndrome due to 2q22 microdeletion
  • Leber amaurosis
  • Congenital optic atrophy
  • Intellectual disability, epilepsy, extrapyramidal syndrome
  • PCDH19-CE - protocadherin 19 clustering epilepsy
  • Childhood cataract
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
  • Truncal ataxia
  • Primary testicular failure
  • Paralysis agitans
  • Weakness of bilateral lower extremities
  • X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome
  • PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism
  • Blepharophimosis, intellectual disability syndrome
  • Central diabetes insipidus
  • Parkinsons disease
  • Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome
  • Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
  • Megalocornea
  • Kawashima Tsuji syndrome
  • Plagiocephaly
  • Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
  • DYRK1A-related intellectual disability syndrome
  • X-linked intellectual disability Turner type
  • Macrocephaly, obesity, mental disability, ocular abnormality syndrome
  • CAMOS syndrome
  • G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome
  • AMME syndrome
  • Constitutional aplastic anaemia
  • Snyder-Robinson x-linked mental retardation syndrome
  • Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
  • Mental retardation, x-linked, Snyder-Robinson type
  • FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome
  • Goldblatt Wallis syndrome
  • Infantile and/or juvenile cataract
  • Partington x-linked mental retardation syndrome
  • Spinocerebellar ataxia autosomal recessive type 23
  • Microphthalmos co-occurrent with congenital ocular coloboma
  • Weakness of right leg
  • Anal atresia
  • Cataract in child
  • Young onset Parkinson's disease
  • Brachymetatarsia
  • Spastic quadriplegia
  • CLCN4-related X-linked intellectual disability syndrome
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency
  • Dextratransposition of aorta
  • X-linked intellectual disability, nail dystrophy, seizures syndrome
  • CRASH syndrome
  • Syndromic X-linked intellectual disability type 7
  • Arachnoid cyst
  • SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome
  • Congenital hypoplasia of bone of forearm
  • Hyperphosphatasaemia with mental retardation
  • Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
  • Woodhouse Sakati syndrome
  • Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome
  • Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
  • Alopecia, contracture, dwarfism, intellectual disability syndrome
  • X-linked intellectual disability Siderius type
  • Intellectual disability Buenos Aires type
  • Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • Congenital aplastic anemia
  • Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome
  • Congenital anomaly of sclera
Frequently Asked Questions
What is the ICD-10 code for other genetic related intellectual disability?

The ICD-10-CM code for other genetic related intellectual disability is F78.A9. The full clinical description is "Other genetic related intellectual disability". F78.A9 is a billable/specific code that can be used on insurance claims and medical billing.

What does ICD-10 code F78.A9 mean?

ICD-10-CM code F78.A9 represents “Other genetic related intellectual disability”. It is classified under Chapter 5: Mental, Behavioral and Neurodevelopmental Disorders and is a billable/specific code that can be used on a claim.

Is F78.A9 a billable code?

Yes, F78.A9 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.

What chapter is F78.A9 in?

F78.A9 is in Chapter 5: Mental, Behavioral and Neurodevelopmental Disorders (codes F01-F99).

What codes cannot be used with F78.A9?

F78.A9 has Excludes1 notes indicating codes that cannot be used together with it, including: borderline intellectual functioning, IQ above 70 to 84 (R41.83).

What SNOMED CT codes does F78.A9 map to?

F78.A9 maps to 379 SNOMED CT concepts: 720979002, 774068004, 720982007, 1332385000, 787175002, and 374 more. SNOMED CT is a clinical terminology used in electronic health records.

What are the UMLS CUIs for F78.A9?

F78.A9 is linked to 1 UMLS Concept Unique Identifier: C5539141. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.

How does F78.A9 relate to ICF functioning codes?

ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like other genetic related intellectual disability affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.

What is the ICD-11 equivalent of F78.A9?

There is no direct ICD-11 mapping available for F78.A9 in the WHO crosswalk tables. This may mean the concept is classified differently in ICD-11. Use the ICD-10 to ICD-11 converter to search for related codes.

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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.