Cataract-deafness-hypogonadism syndrome

Orpha code: 1383OMIM code:

Definicja

Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Cataract-hearing loss-hypogonadism syndrome
Zespół Schaapa, Taylora i Baraitsera
Schaap-Taylor-Baraitser syndrome
Kod ORPHA
1383
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
LD2H.Y

No additional description.

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