Temple syndrome

Term ID

DOID:0111713

Synonyms

Definition

A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. (2)

References

• NCI:C120409
• OMIM:616222
• ORDO:254516
• SNOMEDCT_US_2023_03_01:778012003
• UMLS_CUI:C4015558

Ontology

Human Disease   ( DOID:0111713 )