Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Orpha code: 294026OMIM code:

Definition

A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.

Disease data
Classification

Malformation syndrome

Synonyms
Syndactyly-nystagmus syndrome due to dup(2)(q31.1)
Dup(2)(q31.1)
Trisomia 2q31.1
Syndactyly-nystagmus syndrome due to trisomy 2q31.1
ORPHA code
294026
OMIM code
-
ICD10 code
Q92.3
ICD11 code
-

No additional description.

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