| 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 | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |