Autosomal recessive primary microcephaly
Engelsk navn: Autosomal recessive primary microcephaly
Engelske synonym: MCPH,Microcephalia vera,Microcephaly vera,True microcephaly
Definisjon
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.
Fra Orphanet
ORPHA: 2512
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q02
Mer informasjon
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