Lethal brain and heart developmental defects

Orpha code: 580933OMIM code:

Definicja

A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
580933
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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