F78.A9 OTHER GENETIC RELATED INTELLECTUAL DISABILITY

Synonyms

• Abnormal blue sclerae
• Abnormally short fourth metatarsal
• Acromegaly
• Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
• AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• Alacrima
• Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
• Alopecia universalis
• Alopecia, contracture, dwarfism, intellectual disability syndrome
• Alopecia, epilepsy, intellectual disability syndrome Moynahan type
• Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
• Alpha thalassemia X-linked intellectual disability syndrome
• Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
• Ambiguous genitalia
• AMeD syndrome
• Amelocerebrohypohidrotic syndrome
• Anal atresia
• Aniridia and intellectual disability syndrome
• Aniridia, ptosis, intellectual disability, familial obesity syndrome
• ANK3-related intellectual disability, sleep disturbance syndrome
• Ankyloblepharon
• Anterior maxillary protrusion, strabismus, intellectual disability syndrome
• Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
• Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• Arachnoid cyst
• Ataxia with deafness and intellectual disability syndrome
• Atkin Flaitz syndrome
• Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome
• Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation
• Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
• Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
• Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
• Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
• Bilateral hearing loss
• Blepharophimosis, intellectual disability syndrome
• Blepharophimosis, intellectual disability syndrome, Verloes type
• Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• Blue nevus of skin
• Body height below reference range
• Body height below reference range
• Body height below reference range
• Bone age finding
• Brachymetatarsia
• Brachymetatarsia of fourth metatarsal
• Branchial dysplasia, intellectual disability, inguinal hernia syndrome
• BRESEK syndrome
• CAMOS syndrome
• CASK related intellectual disability
• CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome
• Central obesity
• Central obesity
• Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
• CHD4-related neurodevelopmental disorder
• Christianson syndrome
• CIMDAG syndrome
• Clark Baraitser syndrome
• CLCN4-related X-linked intellectual disability syndrome
• Cleft palate, congenital heart defect, intellectual disability syndrome
• Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
• Colobomatous microphthalmia
• Colobomatous microphthalmia
• Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• Congenital absence of abdominal muscle
• Congenital aniridia
• Congenital aniridia
• Congenital ankyloblepharon
• Congenital anomaly of aortic arch AND/OR descending aorta
• Congenital anomaly of lacrimal gland
• Congenital anomaly of sclera
• Congenital anomaly of subcutaneous tissue
• Congenital atresia of external auditory canal
• Congenital atrophy of optic nerve
• Congenital atrophy of optic nerve
• Congenital cataract with hypertrichosis and intellectual disability syndrome
• Congenital coloboma of iris
• Congenital coloboma of iris
• Congenital cubitus valgus
• Congenital generalized hypertrichosis
• Congenital generalized lipodystrophy
• Congenital hypoplasia of bone of radius and/or ulna
• Congenital hypoplasia of bone of radius and/or ulna
• Congenital hypoplasia of cerebral hemisphere
• Congenital hypoplasia of cerebral hemisphere
• Congenital hypoplasia of cerebral hemisphere
• Congenital hypoplasia of cerebral white matter
• Congenital hypoplasia of cerebral white matter
• Congenital hypoplasia of cerebral white matter
• Congenital hypoplasia of external genitalia
• Congenital hypoplasia of male external genitalia
• Congenital hypoplasia of penis
• Congenital hypoplasia of ulna
• Congenital hypoplasia of ulna
• Congenital hypoplasia of ulna and intellectual disability syndrome
• Congenital hypotrichia
• Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
• Congenital intrauterine infection-like syndrome
• Congenital keratoderma
• Congenital laryngeal abductor palsy
• Congenital malformation of angle of anterior chamber of eye
• Congenital malformation of anterior pituitary
• Congenital malformation of the meninges
• Congenital muscular dystrophy with intellectual disability
• Congenital muscular dystrophy with intellectual disability and severe epilepsy
• Congenital nephritis
• Congenital osteodystrophy
• Congenital prognathism
• Constitutional aplastic anemia
• Cooper Jabs syndrome
• Cortical blindness
• Cortical blindness
• Cortical blindness, intellectual disability, polydactyly syndrome
• Craniodigital syndrome and intellectual disability syndrome
• Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
• Crowding of teeth
• Deafness and intellectual disability Martin Probst type syndrome
• Deafness with onychodystrophy syndrome
• Delayed bone age
• Deletion of part of short arm of chromosome 16
• Dentinogenesis imperfecta
• Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
• Developmental anomaly of periodontal tissue
• Developmental malformation of branchial arch
• Dextrotransposition of aorta
• Diabetes mellitus associated with genetic syndrome
• Disorder of lysine and hydroxylysine metabolism
• Dominant hereditary optic atrophy
• DOORS syndrome
• DYRK1A-related intellectual disability syndrome
• Early onset parkinsonism and intellectual disability syndrome
• Early-onset epilepsy, intellectual disability, brain anomalies syndrome
• Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
• EGF-related primary hypomagnesemia with intellectual disability
• Epileptic encephalopathy
• Essential tremor
• Expressive dysphasia
• Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome
• Fallot complex with intellectual disability and growth delay syndrome
• Familial psoriasis
• Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
• Fragile X chromosome
• FRAXE intellectual disability syndrome
• Fryns Smeets Thiry syndrome
• Genetic intellectual disability
• Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• GMS syndrome
• GNB5-related intellectual disability, cardiac arrhythmia syndrome
• Goldblatt Wallis syndrome
• Goniodysgenesis
• GRIN2A developmental and epileptic encephalopathy
• GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• Growth delay, intellectual disability, hepatopathy syndrome
• Hair defect with photosensitivity and intellectual disability syndrome
• Hao Fountain syndrome
• Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
• Hereditary elliptocytosis
• Hereditary essential tremor
• Hereditary persistence of fetal hemoglobin
• Hereditary persistence of fetal hemoglobin, intellectual disability syndrome
• Hereditary vasopressin-related polyuria
• HIVEP2-related intellectual disability
• Hyperactive behavior
• Hyperphosphatasemia with intellectual disability
• Hypohidrosis
• Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
• Hypoplasia of corpus callosum
• Hypoplasia of corpus callosum
• Hypoplasia of corpus callosum
• Hypotrichosis and intellectual disability syndrome Lopes type
• Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
• Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• Infantile and/or juvenile cataract
• Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• Intellectual disability Birk-Barel type
• Intellectual disability Buenos Aires type
• Intellectual disability with strabismus syndrome
• Intellectual disability, alacrima, achalasia syndrome
• Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
• Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• Intellectual disability, cataract, calcified pinna, myopathy syndrome
• Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
• Intellectual disability, cupped ears syndrome
• Intellectual disability, developmental delay, contracture syndrome
• Intellectual disability, early-onset cataract, microcephaly syndrome
• Intellectual disability, epilepsy, bulbous nose syndrome
• Intellectual disability, epilepsy, extrapyramidal syndrome
• Intellectual disability, expressive aphasia, facial dysmorphism syndrome
• Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
• Intellectual disability, facial dysmorphism, hand anomalies syndrome
• Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
• Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
• Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
• Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome
• Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
• Intellectual disability, myopathy, short stature, endocrine defect syndrome
• Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
• Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
• Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
• Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• Intellectual disability, spasticity, ectrodactyly syndrome
• Juvenile cataract
• Karandikar Maria Kamble syndrome
• Kawashima Tsuji syndrome
• KBG syndrome
• Keppen Lubinsky syndrome
• L1 syndrome
• L1 syndrome
• Lamellar ichthyosis
• Lanugo
• Laryngeal abductor paralysis with intellectual disability syndrome
• Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
• Leber's amaurosis
• Leber's amaurosis
• Left ventricular myocardial noncompaction cardiomyopathy
• Lipodystrophy, intellectual disability, deafness syndrome
• Localized junctional epidermolysis bullosa
• Long face syndrome
• Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• Macrocephaly and developmental delay syndrome
• Macrocephaly, intellectual disability, autism syndrome
• Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• Macroencephaly
• Macrogyria
• Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
• Marfanoid habitus with autosomal recessive intellectual disability syndrome
• Marfanoid physique
• Marfanoid physique
• Martsolf syndrome
• MASA syndrome
• Mass of preauricular region
• Maxillary jaw size anomaly
• Maxillary prognathism
• MECP2 duplication syndrome
• MECP2 related disorder
• MECP2 related disorder
• MEDNIK syndrome
• Megalocornea
• Megalocornea with intellectual disability syndrome
• MEHMO syndrome
• Mesomelic dysplasia, digital anomalies, intellectual disability syndrome
• Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
• Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
• Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
• Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
• Microcephaly, thin corpus callosum, intellectual disability syndrome
• Microphthalmia with ankyloblepharon and intellectual disability syndrome
• MOMO syndrome
• Mongolian spot
• MORM syndrome
• Mowat-Wilson syndrome
• Mowat-Wilson syndrome
• Mowat-Wilson syndrome due to monosomy 2q22
• MYT1L-related developmental delay, intellectual disability, obesity syndrome
• Neck webbing
• Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
• Non-progressive cerebellar ataxia with intellectual disability
• Non-specific syndromic intellectual disability
• Oliver syndrome
• Open bite
• Optic atrophy, intellectual disability syndrome
• Osteopenia, intellectual disability, sparse hair syndrome
• Pachygyria, intellectual disability, epilepsy syndrome
• Paresis of left lower limb
• Paresis of right lower limb
• Parkinson's disease
• Partington syndrome
• PCDH19 clustering epilepsy
• PDE4D haploinsufficiency syndrome
• Periodontitis co-occurrent with genetic disorder
• Perniola Krajewska Carnevale syndrome
• PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
• Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• Pinnal calcification
• Pitt-Hopkins syndrome
• Plagiocephaly
• Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• PPM-X syndrome
• Preaxial polydactyly, colobomata, intellectual disability syndrome
• Prieto Badia Mulas syndrome
• Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• Primary testicular failure
• Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
• Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
• Prune belly syndrome
• Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness
• Pterygium colli with intellectual disability and digital anomaly syndrome
• PUM1-associated developmental disability, ataxia, seizure syndrome
• QRICH1-related intellectual disability, chondrodysplasia syndrome
• RAB18 deficiency
• Rare non-syndromic intellectual disability
• Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
• Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
• Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• Richieri Costa-da Silva syndrome
• Right aortic arch
• Rud's syndrome
• SCARF syndrome
• Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• Seizures and intellectual disability due to hydroxylysinuria
• SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
• Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
• Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
• Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• Severe X-linked intellectual disability Gustavson type
• Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• Skeletal dysplasia with intellectual disability syndrome
• SMARCA2-related blepharophimosis, intellectual disability syndrome
• Snyder-Robinson syndrome
• Spastic paraplegia, glaucoma, intellectual disability syndrome
• Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome
• Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
• Spastic tetraparesis
• Spastic tetraplegia
• Spastic tetraplegia
• Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• Speech delay
• Speech delay
• Speech delay
• Speech delay
• Speech delay
• Speech delay
• Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
• Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome
• STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
• Syndromic X-linked intellectual disability due to JARID1C mutation
• Syndromic X-linked intellectual disability type 11
• Syndromic X-linked intellectual disability type 7
• Talipes cavus
• Tall stature, intellectual disability, renal anomalies syndrome
• TBCK-related intellectual disability syndrome
• TELO2-related intellectual disability, neurodevelopmental disorder
• Tetralogy of Fallot
• Tetraparesis
• Third cranial nerve finding
• Thumb stiffness, brachydactyly, intellectual disability syndrome
• Trichothiodystrophy
• Trichothiodystrophy
• Truncal ataxia
• Urban Rogers Meyer syndrome
• Uveal coloboma with cleft lip and palate and intellectual disability syndrome
• Vasopressin deficiency
• Ventricular myocardial noncompaction cardiomyopathy
• Vertical maxillary excess
• Weakness of bilateral lower limb
• Weakness of left lower limb
• Weakness of left upper limb
• Weakness of right lower limb
• Weakness of right upper limb
• Wiedemann Steiner syndrome
• Woodhouse Sakati syndrome
• X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• X-linked epilepsy with learning disability and behavior disorder syndrome
• X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• X-linked intellectual disability Abidi type
• X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
• X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
• X-linked intellectual disability Armfield type
• X-linked intellectual disability Cabezas type
• X-linked intellectual disability Cantagrel type
• X-linked intellectual disability Cilliers type
• X-linked intellectual disability due to GRIA3 mutations
• X-linked intellectual disability Hedera type
• X-linked intellectual disability hypotonic face syndrome
• X-linked intellectual disability Miles Carpenter type
• X-linked intellectual disability Nascimento type
• X-linked intellectual disability Pai type
• X-linked intellectual disability Schimke type
• X-linked intellectual disability Seemanova type
• X-linked intellectual disability Shrimpton type
• X-linked intellectual disability Siderius type
• X-linked intellectual disability Stevenson type
• X-linked intellectual disability Stocco Dos Santos type
• X-linked intellectual disability Stoll type
• X-linked intellectual disability Turner type
• X-linked intellectual disability Van Esch type
• X-linked intellectual disability Wilson type
• X-linked intellectual disability with acromegaly and hyperactivity syndrome
• X-linked intellectual disability with ataxia and apraxia syndrome
• X-linked intellectual disability with cerebellar hypoplasia syndrome
• X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
• X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
• X-linked intellectual disability with marfanoid habitus
• X-linked intellectual disability with plagiocephaly syndrome
• X-linked intellectual disability with seizure and psoriasis syndrome
• X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• X-linked intellectual disability, craniofacioskeletal syndrome
• X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• X-linked intellectual disability, hypotonia, movement disorder syndrome
• X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency
• X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• X-linked intellectual disability, short stature, overweight syndrome
• X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• X-linked sensorineural hearing loss
• X-linked spasticity, intellectual disability, epilepsy syndrome
• Young onset Parkinson disease

References to Index of Diseases and Injuries

The code F78.A9 has the following ICD-10-CM references to the Index of Diseases and Injuries

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