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Start free with EleplanCataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
ORPHA:699835Malformation syndrome
Also called ZBTB11-related neurodevelopmental disorder
What it is
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to profound intellectual disability, language and motor delays, bilateral congential/early-onset cataracts, combined malonic and methylmalonic aciduria and microcephaly. Movement disorders including ataxia, orofacial and limb dystonia, myoclonus and tremor have also been reported in the majority of the patients. Some patients may also present with facial dysmorphism including long face, hypertelorism and maxillary hyperplasia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
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.
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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