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Autosomal recessive nonsyndromic intellectual deficit
29 OMIM references -
16 associated genes
101 connected diseases
No signs/symptoms info
Disease Type of connection
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Distal monosomy 3p
Dubowitz syndrome
Intellectual deficit - obesity - brain malformations - facial dysmorphism
West syndrome
X-linked non-syndromic intellectual deficit
Estrogen resistance syndrome
Pseudohypoaldosteronism type 2E
Idiopathic pulmonary fibrosis
Fraser syndrome
3C syndrome
Autosomal dominant spastic paraplegia type 8
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Pancytopenia due to IKZF1 mutations
Precursor B-cell acute lymphoblastic leukemia
Constitutional mismatch repair deficiency syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Follicular lymphoma
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Hyperinsulinism due to HNF4A deficiency
Intermittent hydrarthrosis
Intravascular large B-cell lymphoma
MODY syndrome
Non-polyposis Turcot syndrome
Primary mediastinal large B-cell lymphoma
Primary peritoneal carcinoma
Spondyloepiphyseal dysplasia tarda
TRAPS syndrome
5p13 microduplication syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Alpha-crystallinopathy
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant secondary polycythemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Baraitser-Winter syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
CLN3 disease
Charcot-Marie-Tooth disease type 2B2
Cobblestone lissencephaly without muscular or ocular involvement
Cornelia de Lange syndrome
Essential thrombocythemia
FG syndrome type 1
Familial amyloid polyneuropathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Giant cell glioblastoma
Gliosarcoma
Goldberg-Shprintzen megacolon syndrome
Hypocalcemic vitamin D-resistant rickets
Mitochondrial myopathy and sideroblastic anemia
Multiple paragangliomas associated with polycythemia
Myelofibrosis with myeloid metaplasia
Pentosuria
Posterior polar cataract
Retinitis pigmentosa
Richieri Costa-Pereira syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Transthyretin-related familial amyloid cardiomyopathy
Usher syndrome type 3
X-linked intellectual deficit with marfanoid habitus
Zonular cataract
Anaplastic ependymoma
Congenital cataracts - facial dysmorphism - neuropathy
Early-onset autosomal dominant Alzheimer disease
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
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
X-linked intellectual deficit, Najm type
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
GCS1-CDG
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked distal arthrogryposis multiplex congenita
Synonym(s):
- NS-ARID
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 recessive
External references:
29 OMIM references -
No MeSH references
No signs/symptoms info available.