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Metadata
ID DOID:0051039
Name primary autosomal recessive microcephaly 28
Definition A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.
https://pubmed.ncbi.nlm.nih.gov/33199730/
Xrefs

MIM:619453

Parent Relationships

is_a primary autosomal recessive microcephaly

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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