Angelman syndrome due to maternal 15q11q13 deletion
diseaseOn this page
Also known as Angelman syndrome due to maternal monosomy 15q11q13
Summary
Angelman syndrome due to maternal 15q11q13 deletion (MONDO:0020302) is a disease. A subtype of Angelman syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 50
Clinical features
Signs & symptoms
Clinical features (HPO)
50 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002353 | EEG abnormality | Very frequent (80-99%) |
| HP:0004485 | Cessation of head growth | Very frequent (80-99%) |
| HP:0005484 | Secondary microcephaly | Very frequent (80-99%) |
| HP:0011203 | EEG with abnormally slow frequencies | Very frequent (80-99%) |
| HP:0012758 | Neurodevelopmental delay | Very frequent (80-99%) |
| HP:0001250 | Seizure | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0000154 | Wide mouth | Frequent (30-79%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
| HP:0000687 | Widely spaced teeth | Frequent (30-79%) |
| HP:0000729 | Autistic behavior | Frequent (30-79%) |
| HP:0000736 | Short attention span | Frequent (30-79%) |
| HP:0000748 | Inappropriate laughter | Frequent (30-79%) |
| HP:0000752 | Hyperactivity | Frequent (30-79%) |
| HP:0001010 | Hypopigmentation of the skin | Frequent (30-79%) |
| HP:0001513 | Obesity | Frequent (30-79%) |
| HP:0002019 | Constipation | Frequent (30-79%) |
| HP:0002033 | Poor suck | Frequent (30-79%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (30-79%) |
| HP:0002167 | Abnormality of speech or vocalization | Frequent (30-79%) |
| HP:0002307 | Drooling | Frequent (30-79%) |
| HP:0002395 | Lower limb hyperreflexia | Frequent (30-79%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0004302 | Functional motor deficit | Frequent (30-79%) |
| HP:0005469 | Flat occiput | Frequent (30-79%) |
| HP:0005599 | Hypopigmentation of hair | Frequent (30-79%) |
| HP:0007730 | Iris hypopigmentation | Frequent (30-79%) |
| HP:0008947 | Floppy infant | Frequent (30-79%) |
| HP:0010808 | Protruding tongue | Frequent (30-79%) |
| HP:0010864 | Intellectual disability, severe | Frequent (30-79%) |
| HP:0011968 | Feeding difficulties | Frequent (30-79%) |
| HP:0012448 | Delayed myelination | Frequent (30-79%) |
| HP:0040082 | Happy demeanor | Frequent (30-79%) |
| HP:0100703 | Tongue thrusting | Frequent (30-79%) |
| HP:0100738 | Abnormal eating behavior | Frequent (30-79%) |
| HP:0000303 | Mandibular prognathia | Occasional (5-29%) |
| HP:0001251 | Ataxia | Occasional (5-29%) |
| HP:0001336 | Myoclonus | Occasional (5-29%) |
| HP:0001337 | Tremor | Occasional (5-29%) |
| HP:0001344 | Absent speech | Occasional (5-29%) |
| HP:0002015 | Dysphagia | Occasional (5-29%) |
| HP:0002046 | Heat intolerance | Occasional (5-29%) |
| HP:0002136 | Broad-based gait | Occasional (5-29%) |
| HP:0002141 | Gait imbalance | Occasional (5-29%) |
| HP:0002465 | Poor speech | Occasional (5-29%) |
| HP:0010505 | Limitation of movement at ankles | Occasional (5-29%) |
| HP:0033063 | Shortened sleep cycle | Occasional (5-29%) |
| HP:0040196 | Mild microcephaly | Occasional (5-29%) |
| HP:0100022 | Abnormality of movement | Occasional (5-29%) |
| HP:0100023 | Recurrent hand flapping | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Angelman syndrome due to maternal 15q11q13 deletion |
| Mondo ID | MONDO:0020302 |
| Orphanet | 98794 |
| UMLS | C5566334 |
| MedGen | 1797757 |
| GARD | 0019577 |
| Is cancer (heuristic) | no |
Also known as: Angelman syndrome due to maternal monosomy 15q11q13
Disease family
This is a subtype of Angelman syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › syndromic disease › Angelman syndrome › Angelman syndrome due to maternal 15q11q13 deletion
Related subtypes (3): Angelman syndrome due to a point mutation, Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to paternal uniparental disomy of chromosome 15
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.