19q13.11 microdeletion syndrome

Orpha code: 217346OMIM code: 613026

Definition

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.

Disease data
Classification

Malformation syndrome

Synonyms
Del(19)(q13.11)
Del(19)(q13.11)
Monosomia 19q13.11
Monosomy 19q13.11
ORPHA code
217346
OMIM code
613026
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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