Hengel-Maroofian-Schols Syndrome
Disease ID: disease_node_20320
Connections displayed (default: 10).
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| Dbxref | MIM:619641 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Hengel-Maroofian-Schols syndrome |
| Doid Description | A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20320 |
| Doid Id | DOID_0070408 |
| Label | Hengel-Maroofian-Schols Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)