Autosomal Domit Primary Microcephaly 27
Disease ID: disease_node_19306
Connections displayed (default: 10).
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| Dbxref | MIM:150341 |
|---|---|
| Subclassof | DOID_0050736, DOID_0070297 |
| Data Source | DOID |
| Doid Label | autosomal domit primary microcephaly 27 |
| Doid Description | A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19306 |
| Doid Id | DOID_0051038 |
| Label | Autosomal Domit Primary Microcephaly 27 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Primary Microcephaly(ID:disease_node_19276) (Disease)