Angelman syndrome due to maternal monosomy 15q11q13

disorder

SNOMED 1162462009CUI C5566334

Overview

Angelman syndrome due to maternal monosomy 15q11q13 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

EEG with abnormally slow frequencies

Very frequent (80-99%)HP:0011203

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Head stopped growing

Very frequent (80-99%)HP:0004485

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Postnatal microcephaly

Very frequent (80-99%)HP:0005484

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Seizures

Very frequent (80-99%)HP:0001250

Abnormal eating behaviour

Frequent (30-79%)HP:0100738

Abnormal vocalization

Frequent (30-79%)HP:0002167

ASD

Frequent (30-79%)HP:0000729

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Constipation

Frequent (30-79%)HP:0002019

Delayed myelination

Frequent (30-79%)HP:0012448

Feeding difficulties

Frequent (30-79%)HP:0011968

Functional motor deficit

Frequent (30-79%)HP:0004302

Happy demeanour

Frequent (30-79%)HP:0040082

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Hypopigmentation of hair

Frequent (30-79%)HP:0005599

Hypopigmentation of the skin

Frequent (30-79%)HP:0001010

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypotonia, early

Frequent (30-79%)HP:0008947

Inappropriate laughter

Frequent (30-79%)HP:0000748

Iris hypopigmentation

Frequent (30-79%)HP:0007730

Large mouth

Frequent (30-79%)HP:0000154

Lingual protrusion

Frequent (30-79%)HP:0010808

Lower limb hyperreflexia

Frequent (30-79%)HP:0002395

Mental retardation, severe

Frequent (30-79%)HP:0010864

Obesity

Frequent (30-79%)HP:0001513

Poor attention span

Frequent (30-79%)HP:0000736

Poor sucking

Frequent (30-79%)HP:0002033

Related Conditions

Angelman syndrome(parent)

Quick Facts

SNOMED CT: 1162462009
UMLS CUI: C5566334
Fully Specified Name: Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.