Gomez-Lopez-Hernandez syndrome
A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020022
central nervous system malformation
is_a
Cerebellotrigeminal dermal dysplasia
related
Cerebellotrigeminal-dermal dysplasia
related
Cerebellotrigeminal-dermal dysplasia syndrome
exact
GLHS
related
Gomez Lopez Hernandez syndrome
related
Gomez-Lopez-Hernandez syndrome
exact
Gomez-Lopez-Hernández syndrome
related
craniosynostosis-alopecia-brain defect syndrome
exact