ODCs

Click node...

1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Premature chromosome condensation with microcephaly and intellectual deficit

Ataxia-telangiectasia variant


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MCPH1	(0.52)	ATM

Citations in the biomedical literature:

Premature chromosome condensation with microcephaly and intellectual deficit		Ataxia-telangiectasia variant
	Synonym(s): (no synonyms)		Synonym(s): - v-AT

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

Premature chromosome condensation with microcephaly and intellectual deficit
	Very frequent - Autosomal recessive inheritance - Chromosomal or genetic anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism - Sloping forehead - Thin / retracted lips Frequent - Agenesis / hypoplasia / aplasia of kidneys - Corpus callosum / septum pellucidum total / partial agenesis - Cortical anomaly / thick bone cortical layer - Dilated cerebral ventricles without hydrocephaly - Hypereflexia - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter
Ataxia-telangiectasia variant
(no data available)