Intellectual disability-balding-patella luxation-acromicria syndrome

Orpha code: 3041OMIM code: 300977

Definicja

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Scholte-Begeer-van Essen syndrome
Zespół Scholte, Begeera i van Essena
Kod ORPHA
3041
Kod OMIM
300977
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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