4q25 proximal deletion syndrome

Orpha code: 502437OMIM code:

Definicja

A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Proximal del(4)(q25)
del(4)(q25) proksymalna
Monosomia proksymalna 4q25
Proximal monosomy 4q25
Kod ORPHA
502437
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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