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Autosomal dominant nonsyndromic intellectual deficit
13 OMIM references -
14 associated genes
377 connected diseases
No signs/symptoms info
Disease Type of connection
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Craniopharyngioma
Pilomatrixoma
West syndrome
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
2q23.1 microdeletion syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal recessive hyper-IgE syndrome
Autosomal recessive spastic paraplegia type 30
Combined immunodeficiency due to DOCK8 deficiency
Hereditary sensory and autonomic neuropathy type 2
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
Early-onset autosomal dominant Alzheimer disease
X-linked non-syndromic intellectual deficit
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Young adult-onset Parkinsonism
Precursor T-cell acute lymphoblastic leukemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Giant cell glioblastoma
Gliosarcoma
Miller-Dieker syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile myelomonocytic leukemia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Familial prostate cancer
Frontotemporal dementia with motor neuron disease
Hereditary breast and ovarian cancer syndrome
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal agammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute promyelocytic leukemia
Huntington disease
Juvenile Huntington disease
Noonan syndrome
Familial pancreatic carcinoma
Estrogen resistance syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
MODY syndrome
Lethal acantholytic epidermolysis bullosa
Naxos disease
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Cowden syndrome
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Catecholaminergic polymorphic ventricular tachycardia
Hyperparathyroidism - jaw tumor syndrome
Parathyroid carcinoma
Aneurysm - osteoarthritis syndrome
Myoclonus-dystonia syndrome
T-B+ severe combined immunodeficiency due to CD45 deficiency
17p13.3 microduplication syndrome
Neuroblastoma
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
17q11 microdeletion syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Hereditary nonpolyposis colon cancer
Papillary or follicular thyroid carcinoma
LEOPARD syndrome
Metachondromatosis
Retinitis pigmentosa
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Spinocerebellar ataxia type 14
Common variable immunodeficiency
Fanconi anemia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Oligodontia
Pilocytic astrocytoma
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Alobar holoprosencephaly
B-cell chronic lymphocytic leukemia
Lobar holoprosencephaly
Loeys-Dietz syndrome type 1
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Alveolar rhabdomyosarcoma
Herpetic encephalitis
Parkinsonian-pyramidal syndrome
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Familial capillary hemangioma
Proteus syndrome
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Behavioral variant of frontotemporal dementia
Familial gastric cancer
Gastric linitis plastica
Progressive non-fluent aphasia
Semantic dementia
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Benign familial epilepsy of childhood with rolandic spikes
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Landau-Kleffner syndrome
Rolandic epilepsy - speech dyspraxia
SHORT syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Split hand-split foot malformation
46,XX gonadal dysgenesis
Chronic myeloid leukemia
Lissencephaly due to LIS1 mutation
Subcortical band heterotopia
22q11.2 deletion syndrome
EEM syndrome
Hypotrichosis with juvenile macular degeneration
Axenfeld anomaly
Axenfeld-Rieger syndrome
Familial atrial fibrillation
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Uveal coloboma - cleft lip and palate - intellectual deficit
Zonular cataract
Distal hereditary motor neuropathy type 7
Familial papillary renal cell carcinoma
Perry syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal recessive axonal neuropathy with neuromyotonia
Acute megakaryoblastic leukemia without Down syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial retinoblastoma
Juvenile autosomal recessive medullary cystic kidney disease
Monosomy 13q14
Unilateral retinoblastoma
Extraskeletal Ewing sarcoma
Familial renal cell carcinoma
Haddad syndrome
Hyperinsulinism due to HNF4A deficiency
Ondine syndrome
Weaver syndrome
X-linked Emery-Dreifuss muscular dystrophy
Coffin-Siris syndrome
Familial rhabdoid tumor
Romano-Ward syndrome
Early-onset generalized limb-onset dystonia
Childhood absence epilepsy
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Juvenile myoclonic epilepsy
Panhypopituitarism
Charcot-Marie-Tooth disease type 4D
17q11.2 microduplication syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Branchio-oculo-facial syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hereditary hypotrichosis with recurrent skin vesicles
Inherited acute myeloid leukemia
Marfan syndrome type 2
Myhre syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Watson syndrome
3M syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Adams-Oliver syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive spastic paraplegia type 20
Burkitt lymphoma
Carney complex
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Familial atrial myxoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Isolated NADH-CoQ reductase deficiency
Leber hereditary optic neuropathy
Maternally-inherited Leigh syndrome
Obesity due to prohormone convertase I deficiency
Primary pigmented nodular adrenocortical disease
Pyogenic bacterial infections due to MyD88 deficiency
Usher syndrome type 1
Waldenström macroglobulinemia
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Scalp-ear-nipple syndrome
Holt-Oram syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Chondrodysplasia, Blomstrand type
Craniorachischisis
Dental ankylosis
Eiken syndrome
Enchondromatosis
Familial vesicoureteral reflux
Metaphyseal chondrodysplasia, Jansen type
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Occipital encephalocele
Severe early-onset axonal neuropathy due to NEFL deficiency
2q37 microdeletion syndrome
Acute necrotizing encephalopathy of childhood
Anaplastic ependymoma
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Werner syndrome
Auriculocondylar syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant secondary polycythemia
Autosomal recessive Emery-Dreifuss muscular dystrophy
Blackfan-Diamond anemia
Boomerang dysplasia
Charcot-Marie-Tooth disease type 2B1
Chronic intestinal pseudoobstruction
Colobomatous microphthalmia
Congenital muscular dystrophy due to LMNA mutation
Congenital short bowel syndrome
Congenital valvular dysplasia
Dedifferentiated liposarcoma
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Ehlers-Danlos syndrome with periventricular heterotopia
Familial acute necrotizing encephalopathy
Familial congenital palsy of trochlear nerve
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial dysautonomia
Familial infantile bilateral striatal necrosis
Familial isolated congenital asplenia
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Fibronectin glomerulopathy
Frontometaphyseal dysplasia
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Growth delay due to insulin-like growth factor I resistance
Hartsfield-Bixler-Demyer syndrome
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Hyperinsulinism due to HNF1A deficiency
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Idiopathic central precocious puberty
Inherited congenital spastic tetraplegia
Isolated anophthalmia - microphthalmia
Isolated ectopia lentis
Isolated trigonocephaly
Kallmann syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Lissencephaly due to TUBA1A mutation
Mandibuloacral dysplasia with type A lipodystrophy
Multiple paragangliomas associated with polycythemia
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia - cancer predisposition syndrome
Opsismodysplasia
Osteodysplasty, Melnick-Needles type
Osteoglophonic dwarfism
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Pfeiffer syndrome type 1
Progeria-associated arthropathy
Severe intellectual deficit and progressive spastic paraplegia
Spinocerebellar ataxia type 18
Spondylocarpotarsal synostosis
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Terminal osseous dysplasia - pigmentary defects
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
CLOVE syndrome
Distal 17p13.3 microdeletion syndrome
Familial advanced sleep-phase syndrome
Hemimegalencephaly
Macrodactyly of fingers, unilateral
Mantle cell lymphoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Multiple myeloma
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Cardiofaciocutaneous syndrome
Coffin-Lowry syndrome
Costello syndrome
Hereditary pheochromocytoma-paraganglioma
Linear nevus sebaceus syndrome
Monosomy 5p
Neurofibromatosis type 2
Neurofibromatosis type 3
Phakomatosis pigmentokeratotica
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Congenital communicating hydrocephalus
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Autoimmune lymphoproliferative syndrome with recurrent infections
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Male infertility due to NANOS1 mutation
Melanoma of soft part
Multiple keratoacanthoma, Ferguson-Smith type
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Tietz syndrome
Townes-Brocks syndrome
Waardenburg syndrome type 2
X-linked distal arthrogryposis multiplex congenita
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Bannayan-Riley-Ruvalcaba syndrome
Berardinelli-Seip congenital lipodystrophy
Cap myopathy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Diffuse cutaneous systemic sclerosis
Digitotalar dysmorphism
Donnai-Barrow syndrome
Heritable pulmonary arterial hypertension
Hypotrichosis simplex
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Limited cutaneous systemic sclerosis
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Sheldon-Hall syndrome
Squamous cell carcinoma of head and neck
Trismus - pseudocamptodactyly
Typical nemaline myopathy
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
13 OMIM references -
No MeSH references

No signs/symptoms info available.