1p36 deletion syndrome
Engelsk navn: 1p36 deletion syndrome
Engelske synonym: Del(1)(p36),Deletion 1p36,Deletion 1pter,Monosomy 1p36,Monosomy 1pter,Subtelomeric 1p36 deletion
Definisjon
A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
Fra Orphanet
ORPHA: 1606
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
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