Temple syndrome due to maternal uniparental disomy of chromosome 14

Orpha code: 96184OMIM code: 616222

Definition

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
Classification

Etiological subtype

Synonyms
UPD(14)mat
UPD(14)mat
ORPHA code
96184
OMIM code
616222
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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