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Start free with EleplanMaternal uniparental disomy of chromosome 1 syndrome
ORPHA:251009Malformation syndrome
Also called UPD(1)mat
What it is
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
29- Abnormal blistering of the skin
- Abnormality of limb bone morphology
- Ataxia
- Autism
- Cataract
- Delayed closure of the anterior fontanelle
- Downturned corners of mouth
- Epiphyseal stippling
- Failure to thrive
- Feeding difficulties
- Gastroesophageal reflux
- Growth delay
- Hearing impairment
- Hepatomegaly
- Neonatal hypotonia
- Nystagmus
- Pancytopenia
- Panhypogammaglobulinemia
- Progressive psychomotor deterioration
- Progressive spasticity
- Recurrent infections
- Seizure
- Short stature
- Single transverse palmar crease
- Smooth philtrum
- Talipes
- Type I diabetes mellitus
- Uplifted earlobe
- Ventriculomegaly
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.
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.
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