Chromosome 19q13.11 deletion syndrome
MONDO:0013090The 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.
Also known as: 19q13.11 microdeletion syndrome, Del(19)(q13.11), monosomy 19q13.11, chromosome 19Q13.11 deletion syndrome, distal, chromosome 19q13.11 deletion syndrome, distal
6 clinical trials for this condition and its sub-types.
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Broader categories
Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Autosomal anomaly
(0)
Chromosome 19 disorder
(0)
Disease by developmental or physiological process
(0)