FG syndrome

Term ID

DOID:14711

Synonyms

• Keller syndrome
• Opitz-Kaveggia syndrome

Definition

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. (3)

References

• GARD:2317
• MESH:C537923
• OMIM:300321
• OMIM:300406
• OMIM:300422
• OMIM:300581
• OMIM:305450
• ORDO:323
• ORDO:93932
• SNOMEDCT_US_2023_03_01:49984004
• UMLS_CUI:C0220769

Ontology

Human Disease   ( DOID:14711 )