ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Charcot-Marie-Tooth disease type 2B2

Congenital cataracts - facial dysmorphism - neuropathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED25	(0.56)	CTDP1

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 2B2		Congenital cataracts - facial dysmorphism - neuropathy
	Synonym(s): - AR-CMT2B2 - Autosomal recessive axonal CMT4C3 - Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2		Synonym(s): - CCFDN

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537991		External references: 1 OMIM reference - No MeSH references

Congenital cataracts - facial dysmorphism - neuropathy
	Very frequent - Autosomal recessive inheritance - Camptodactyly of fingers - Cataract / lens opacification - Intrauterine growth retardation - Late puberty / hypogonadism / hypogenitalism - Long midface - Long / large / bulbous nose - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Nerve conduction abnormality - Short stature / dwarfism / nanism Frequent - Anomalies of spine, vertebrae and pelvis - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Long / thick / curved lashes / trichomegaly / polytrichia - Muscle anomalies - Nystagmus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Strabismus / squint Occasional - Ataxia / incoordination / trouble of the equilibrium - Dilated cerebral ventricles without hydrocephaly - Kyphosis - Movement disorder - Scoliosis
Charcot-Marie-Tooth disease type 2B2
(no data available)