| Metadata | |
|---|---|
| ID | DOID:0070712 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070712 Copy |
| Name | developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies |
| Definition | An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/35304602/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621384 |
| Subsets |
DO_rare_slim |
| Synonyms |
DEDCRF [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |