1q44 microdeletion syndrome

Orpha code: 238769OMIM code:

Definition

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Disease data
Classification

Malformation syndrome

Synonyms
Del(1)(q44)
Del(1)(q44)
Monosomia 1q44
Monosomy 1q44
ORPHA code
238769
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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