Temple syndrome due to maternal uniparental disomy of chromosome 14

Orpha code: 96184OMIM code: 616222

Definicja

A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).

Disease data
Klasyfikacja

Etiological subtype

Synonimy
UPD(14)mat
UPD(14)mat
Kod ORPHA
96184
Kod OMIM
616222
Kod ICD10
Q99.8
Kod ICD11
-

No additional description.

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