20p13 microdeletion syndrome

Orpha code: 313781OMIM code:

Definition

20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
20p subtelomeric deletion syndrome
Del(20)(p13)
Monosomia 20p13
Zespół subtelomerowej delecji 20p
Del(20)(p13)
Monosomy 20p13
ORPHA code
313781
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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