Coffin-Siris syndrome with normal plasma biotinidase activity.
Bonneau
D
D
Berthier
M
M
Oriot
D
D
Munnich
A
A
D000015:Abnormalities, Multiple / Q000201:enzymology*; D000505:Alopecia / Q000151:congenital / Q000201:enzymology*; D000581:Amidohydrolases / Q000172:deficiency / Q000378:metabolism*; D043523:Biotinidase; D002675:Child, Preschool; D005260:Female; D006801:Humans; D013577:Syndrome
D000581:Amidohydrolases; D043523:Biotinidase