1p36 deletion syndrome

Orpha code: 1606OMIM code: 607872

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Del(1)(p36)
Del(1)(p36)
Delecja 1p36
Delecja 1pter
Delecja subtelomerowa 1p36
Monosomia 1p36
Monosomia 1pter
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
ORPHA code
1606
OMIM code
607872
ICD10 code
Q93.5
ICD11 code
LD44.11

No additional description.

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