1p35.2 microdeletion syndrome

Orpha code: 456298OMIM code:

Definition

A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.

Disease data
Classification

Malformation syndrome

Synonyms
Del(1)(p35.2)
Del(1)(p35.2)
Delecja 1p35.2
Monosomia 1p35.2
Deletion 1p35.2
Monosomy 1p35.2
ORPHA code
456298
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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