Chromosome 6pter-p24 deletion syndrome

MONDO:0012948

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

Also known as: 6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, chromosome 6pter-p24 deletion syndrome, chromosome 6pter-p24 deletion syndrome, isolated cases, distal deletion 6p, distal monosomy type 6p, monosomy 6p25

1 clinical trial for this condition and its sub-types, 0 tagged with Chromosome 6pter-p24 deletion syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Iridogoniodysgenesis (2) ↑ Partial deletion of the short arm of chromosome 6 (0)

Including sub-types (1) Tagged with Chromosome 6pter-p24 deletion syndrome (0)

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