<unk>  OMIM 618744 has so far been identified in 22 individuals from 15 families., According to OMIM's review of all published cases and the initial study from<unk>  et al, all children presented in early life with severe and intractable epileptic seizures. Severe developmental delay was found in all individuals, with basically absence of all developmental milestones. Children were unable to roll over or sit, did not develop speech, had absent visual tracking and most cases required gastro-intestinal tube feeding due to severe orofacial hypotonia. Other neurological features included infantile epileptic spasms, axial hypotonia, peripheral spasticity and/or hyperreflexia, and a few cases showed dystonia. Head circumference decreased progressively over time. MRI brain imaging did not detect major structural brain abnormalities, but showed progressive brain atrophy over time. Mild dysmorphic features were noted amongst several individuals, including a sloping forehead, suture ridging, bitemporal narrowing, high hairline, arched eyebrows, pronounced philtrum, and a relatively small mouth and large ears. Most children died early in life
Barakat-Perenthaler syndrome
Koolen–De Vries syndrome
Baggio–Yoshinari syndrome
Urbach–Wiethe disease
Bannayan–Riley–Ruvalcaba syndrome
Witteveen–Kolk syndrome
Townes–Brocks syndrome
McKittrick-Wheelock syndrome