Atkin-Flaitz syndrome

Orpha code: 1193OMIM code: 300431

Definicja

A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
X-linked intellectual disability, Atkin type
Niepełnosprawność intelektualna sprzężona z chromosomem X, typu Atkina
Kod ORPHA
1193
Kod OMIM
300431
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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