disease has major feature syndromic intellectual disability Gomez-Lopez-Hernandez syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome https://www.malacards.org/card/gomez_lopez_hernandez_syndrome_2 Gomez Lopez Hernandez syndrome Gomez-Lopez-Hernandez syndrome UMLS:C0795959 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. Cerebellotrigeminal dermal dysplasia OMIM:601853 GLHS MONDO:0011157 Gomez-Lopez-Hernández syndrome Orphanet:1532 SCTID:722451006 GARD:0000229 MEDGEN:163201 craniosynostosis-alopecia-brain defect syndrome Cerebellotrigeminal-dermal dysplasia Cerebellotrigeminal-dermal dysplasia syndrome MESH:C537285 central nervous system malformation