| Metadata | |
|---|---|
| ID | DOID:0060935 |
| Name | infantile hypotonia with psychomotor retardation and characteristic facies-3 |
| Definition | An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. https://pubmed.ncbi.nlm.nih.gov/30103036/, https://pubmed.ncbi.nlm.nih.gov/27040692/, https://pubmed.ncbi.nlm.nih.gov/27040691/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 [EXACT] IHPRF3 [EXACT] TBCK-related intellectual disability syndrome [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |