19q13.11 microdeletion syndrome
Synonyms: Del(19)(q13.11) | Monosomy 19q13.11
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
19q13.11 microdeletion syndrome?
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