Tetrasomy 18p

Orpha code: 3307OMIM code: 614290

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Isochromosome 18p
Izochromosom 18p
Kod ORPHA
3307
Kod OMIM
614290
Kod ICD10
Q99.8
Kod ICD11
LD7Y

No additional description.

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