ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Premature chromosome condensation with microcephaly and intellectual deficit

Neurofibromatosis type 3


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MCPH1	(0.68)	SMARCB1

Citations in the biomedical literature:

Premature chromosome condensation with microcephaly and intellectual deficit		Neurofibromatosis type 3
	Synonym(s): (no synonyms)		Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C536641

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
Neurofibromatosis type 3
(no data available)