Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital nervous system abnormality +
diplegia of upper limb
diverticulitis of colon
functional colonic disease +
functional diarrhea
Gerstmann syndrome
herpes zoster +
Infantile Multisystem Neurologic Disease with Osseous Fragility
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease +
intestinal pseudo-obstruction +
A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT