MRI of a patient with a TUBA1A mutation showing<unk>  with cerebellar hypoplasia. a. smooth brain surface (arrow) b. absent corpus callosum (arrow).<unk> c patients suffer from spasticity, seizures, severe developmental delay and intellectual disabilities with survival varying from days to years. Patients may also have dysmorphic craniofacial features, abnormal genitalia, and arthrogryposis.<unk>  may arise as a part of Baraitser-Winter syndrome which comprises also ptosis, coloboma, hearing loss and learning disability. Moreover, it is the distinct developmental brain abnormality in "microcephalic osteodysplastic primordial dwarfism" (MOPD1).<unk>  may be accompanied by micromelia as in Basel-Vanagaite-Sirota syndrome <unk> -Micromelia syndrome).
Microlissencephaly
Microhydranencephaly
Schizencephaly
Hemihydranencephaly
Lissencephaly
Holoprosencephaly
Hydranencephaly
Megalencephaly