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Gomez Lopez Hernandez syndrome

disorder
SNOMED 722451006CUI C0795959

Overview

Gomez Lopez Hernandez syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hair loss
Always present (100%)HP:0001596
Abnormality of brainstem morphology
Very frequent (80-99%)HP:0002363
Absence of scalp hair
Very frequent (80-99%)HP:0002293
Ataxia
Very frequent (80-99%)HP:0001251
Cerebellar signs
Very frequent (80-99%)HP:0001317
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Corneal opacity
Very frequent (80-99%)HP:0007957
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Impaired pain sensation
Very frequent (80-99%)HP:0007328
Intellectual impairment
Very frequent (80-99%)HP:0100543
Low-set ears
Very frequent (80-99%)HP:0000369
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Rhombencephalosynapsis
Very frequent (80-99%)HP:0031913
Tall shaped head
Very frequent (80-99%)HP:0000262
Wide skull shape
Very frequent (80-99%)HP:0000248
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormal toenail development
Frequent (30-79%)HP:0100797
Decreased volume of lip vermillion
Frequent (30-79%)HP:0000233
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Mask-like facies
Frequent (30-79%)HP:0000298
Nostrils anteverted
Frequent (30-79%)HP:0000463
Poor vision
Frequent (30-79%)HP:0000505
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Squint
Frequent (30-79%)HP:0000486
Trigeminal anesthesia
Frequent (30-79%)HP:0031912
Abnormality of skull shape
HP:0002678

Related Conditions

Congenital alopecia(parent)
Neuroectodermal dysplasia(parent)
Multiple system malformation syndrome(parent)
Rhombencephalosynapsis(parent)

Quick Facts

SNOMED CT
722451006
UMLS CUI
C0795959
Fully Specified Name
Gomez Lopez Hernandez syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.