Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


Distal deletion 14q

Telomeric deletion 14q

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:Q93.5 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150
  • ICD-10:Q93.5
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • ORPHA:96150
part of
  • http://www.orpha.net/ORDO/Orphanet_262110

Term relations

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