microcephalic osteodysplastic primordial dwarfism type I
A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
What is microcephalic osteodysplastic primordial dwarfism type I?
microcephalic osteodysplastic primordial dwarfism type I is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have microcephalic osteodysplastic primordial dwarfism type I, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with microcephalic osteodysplastic primordial dwarfism type I
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.