Short stature-brachydactyly-obesity-global developmental delay syndrome

Orpha code: 464288OMIM code: 617157

Definicja

A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
SBIDDS
SBIDDS
Kod ORPHA
464288
Kod OMIM
617157
Kod ICD10
-
Kod ICD11
-

No additional description.

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