Autosomal recessive primary microcephaly

rare

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

Identifiers: MONDO:0016660 Orphanet:2512
Part of: Mendelian neurodevelopmental disorder Autosomal recessive disease Isolated congenital microcephaly
Also known as: MCPH · microcephalia vera · microcephaly vera · microcephaly, primary autosomal recessive · microcephaly, primary, autosomal recessive

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Microcephaly with or without short stature	MONDO:0100346	3
Microcephalic primordial dwarfism due to ZNF335 deficiency	MONDO:0014043		ZNF335
Microcephaly 1, primary, autosomal recessive	MONDO:0009617		MCPH1
Microcephaly 11, primary, autosomal recessive	MONDO:0014173		PHC1
Microcephaly 12, primary, autosomal recessive	MONDO:0014484		CDK6
Microcephaly 13, primary, autosomal recessive	MONDO:0014473		CENPE
Microcephaly 14, primary, autosomal recessive	MONDO:0014623		SASS6
Microcephaly 15, primary, autosomal recessive	MONDO:0014660		MFSD2A
Microcephaly 16, primary, autosomal recessive	MONDO:0014730		ANKLE2
Microcephaly 17, primary, autosomal recessive	MONDO:0014908		CIT
Microcephaly 19, primary, autosomal recessive	MONDO:0054716
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	MONDO:0011435		WDR62
Microcephaly 20, primary, autosomal recessive	MONDO:0054761		KIF14
Microcephaly 21, primary, autosomal recessive	MONDO:0054804		NCAPD2
Microcephaly 22, primary, autosomal recessive	MONDO:0054805		NCAPD3
Microcephaly 23, primary, autosomal recessive	MONDO:0054806
Microcephaly 24, primary, autosomal recessive	MONDO:0032583
Microcephaly 25, primary, autosomal recessive	MONDO:0032694
Microcephaly 28, primary, autosomal recessive	MONDO:0030339
Microcephaly 29, primary, autosomal recessive	MONDO:0031060
Microcephaly 3, primary, autosomal recessive	MONDO:0011488		CDK5RAP2
Microcephaly 30, primary, autosomal recessive	MONDO:0859342		BUB1
Microcephaly 31, primary, autosomal recessive	MONDO:0980991		CDK4
Microcephaly 4, primary, autosomal recessive	MONDO:0011437		KNL1
Microcephaly 5, primary, autosomal recessive	MONDO:0012106		ASPM
Microcephaly 7, primary, autosomal recessive	MONDO:0012989		STIL
Microcephaly 8, primary, autosomal recessive	MONDO:0013849		CEP135
Microcephaly 9, primary, autosomal recessive	MONDO:0013923		CEP152
Microcephaly with simplified gyral pattern	MONDO:0011372

Rare disease

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