Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Aarskog Syndrome
Aarskog Syndrome
Aarskog Syndrome
Aarskog-Scott Syndrome
An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.
An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.
C0175701
C129720
Disease or Syndrome
FGD
Faciogenital Dysplasia
NICHD
FGD1 Gene
Syndrome
X-Linked Inherited Disorder
NICHD Terminology