A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://ghr.nlm.nih.gov/condition/fg-syndrome url:http://en.wikipedia.org/wiki/FG_syndrome http://purl.obolibrary.org/obo/ECO_0007637 url:http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1 ]
Term information
- OMIM:300321
- SNOMEDCT_US_2022_03_01:49984004
- ORDO:93932
- OMIM:300406
- GARD:2317
- OMIM:305450
- ORDO:323
- MESH:C537923
- UMLS_CUI:C0220769
- OMIM:300581
- OMIM:300422
DO_rare_slim
- Xref MGI. OMIM mapping confirmed by DO. [SN].
- A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
- Keller syndrome
- Opitz-Kaveggia syndrome
- disease_ontology
- DOID:14711