loading...| Preferred Name | Melnick-Needles syndrome | |
| Synonyms |
|
|
| Definitions |
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111788 |
|
| definition |
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28. |
|
| imported from | ||
| label |
Melnick-Needles syndrome |
|
| prefixIRI |
DOID:0111788 |
|
| prefLabel |
Melnick-Needles syndrome |
|
| subClassOf |