Non-distal deletion 10q

Orpha code: 1581OMIM code:

Definicja

Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Interstycjalna delecja 10q
Nietelomerowa monosomia 10q
Non-telomeric monosomy 10q
Nietelomerowa delecja 10q
Non-distal monosomy 10q
Kod ORPHA
1581
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
LD44.A0

No additional description.

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