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Chromosome 19q13.11 deletion syndrome
rareThe 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.
- Identifiers
- MONDO:0013090 Orphanet:217346
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 19
- Also known as
- 19q13.11 microdeletion syndrome · Del(19)(q13.11) · monosomy 19q13.11
Subtypes
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