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1q44 microdeletion syndrome
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
ORPHA:238769Classification level: Disorder
- Monosomy 1q44
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 10943
- MedDRA: -
It has been reported in four unrelated patients.
The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.
This microdeletion was identified by array CGH (comparative genomic hybridization).
- Summary information
- Japanese (2019, pdf)