Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brain wasting
Always present (100%)HP:0012444
Head circumference small for gestational age
Always present (100%)HP:0011451
Short neck
Always present (100%)HP:0000470
Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Prominent lips
Very frequent (80-99%)HP:0012471
Sloping forehead
Very frequent (80-99%)HP:0000340
Tight skin
Very frequent (80-99%)HP:0100679
Abnormal cortical gyration
Frequent (30-79%)HP:0002536
Abnormal mouth
Frequent (30-79%)HP:0000153
Abnormality of neuronal migration
Frequent (30-79%)HP:0002269
Abnormality of the cerebellar vermis
Frequent (30-79%)HP:0002334
Abnormality of the philtrum
Frequent (30-79%)HP:0000288
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Absent/small skeletal muscles
Frequent (30-79%)HP:0001460
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Aplasia of the eyelids
Frequent (30-79%)HP:0011224
Arc de cercle
Frequent (30-79%)HP:0002179
Broad foot
Frequent (30-79%)HP:0001769
Broad neck
Frequent (30-79%)HP:0000475
Cerebral pachygyria
Frequent (30-79%)HP:0001302
Cleft of upper lip
Frequent (30-79%)HP:0000204
Dandy-Walker cyst
Frequent (30-79%)HP:0001305
Decrease in jaw opening
Frequent (30-79%)HP:0000211
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Dermatopathy
Frequent (30-79%)HP:0000951
Disproportionately large hands
Frequent (30-79%)HP:0001176
Edematous lip
Frequent (30-79%)HP:0031244
Quick Facts
- SNOMED CT
- 77817004
- UMLS CUI
- C0265218
- Fully Specified Name
- Neu-Laxova 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.