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
Characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. Caused by homozygous mutation in the RRP7A gene on chromosome 22q13. (OMIM)