DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Orpha code: 268261OMIM code:

Definition

A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.

Disease data
Classification

Etiological subtype

Synonyms
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomia 21q22.13q22.2
Monosomia 21q22.13-q22.2
Zespół mikrodelecji 21q22.13q22.2
Zespół mikrodelecji 21q22.13-q22.2
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
ORPHA code
268261
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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