Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanAngelman syndrome due to maternal 15q11q13 deletion
ORPHA:98794Etiological subtype
Also called Angelman syndrome due to maternal monosomy 15q11q13
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Infancy
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000Angelman syndrome
- Inheritance
- Not applicableAngelman syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
28- Abnormal eating behavior
- Abnormality of speech or vocalization
- Autistic behavior
- Constipation
- Delayed myelination
- Drooling
- Feeding difficulties
- Flat occiput
- Floppy infant
- Functional motor deficit
- Happy demeanor
- Hyperactivity
- Hypopigmentation of hair
- Hypopigmentation of the skin
- Hypoplasia of the corpus callosum
- Inappropriate laughter
- Intellectual disability, severe
- Iris hypopigmentation
- Lower limb hyperreflexia
- Obesity
- Poor suck
- Protruding tongue
- Scoliosis
- Short attention span
- Strabismus
- Tongue thrusting
- Widely spaced teeth
- Wide mouth
Sometimes5–29%
15- Abnormality of movement
- Absent speech
- Ataxia
- Broad-based gait
- Dysphagia
- Gait imbalance
- Heat intolerance
- Limitation of movement at ankles
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.