A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)
primary autosomal recessive microcephaly 10
primary autosomal recessive microcephaly 11
primary autosomal recessive microcephaly 12
primary autosomal recessive microcephaly 13
primary autosomal recessive microcephaly 14
primary autosomal recessive microcephaly 15
primary autosomal recessive microcephaly 16
primary autosomal recessive microcephaly 17
primary autosomal recessive microcephaly 19
primary autosomal recessive microcephaly 2 with or without cortical malformations
Primary Autosomal Recessive Microcephaly 20
Primary Autosomal Recessive Microcephaly 21
Primary Autosomal Recessive Microcephaly 22
Primary Autosomal Recessive Microcephaly 23
Primary Autosomal Recessive Microcephaly 24
Primary Autosomal Recessive Microcephaly 25
Primary Autosomal Recessive Microcephaly 26
Primary Autosomal Recessive Microcephaly 27
Primary Autosomal Recessive Microcephaly 28
Primary Autosomal Recessive Microcephaly 29
primary autosomal recessive microcephaly 3
Primary Autosomal Recessive Microcephaly 30
primary autosomal recessive microcephaly 4
primary autosomal recessive microcephaly 5
primary autosomal recessive microcephaly 6
primary autosomal recessive microcephaly 7
primary autosomal recessive microcephaly 8
primary autosomal recessive microcephaly 9
Synonyms
Exact Synonyms:
MCPH1
;
PCC syndrome
;
premature chromosome condensation syndrome
;
premature chromosome condensation with microcephaly and mental retardation