Tetrasomy 18p

Orpha code: 3307OMIM code: 614290

Definition

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

Disease data
Classification

Malformation syndrome

Synonyms
Isochromosome 18p
Izochromosom 18p
ORPHA code
3307
OMIM code
614290
ICD10 code
Q99.8
ICD11 code
LD7Y

No additional description.

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