Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome

disorder

SNOMED 1260134001CUI C4284592

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased height of philtrum

Always present (100%)HP:0000322

Delayed ability to stand

Always present (100%)HP:0025335

Delayed language development

Always present (100%)HP:0000750

Dilatation of lateral cerebral ventricles

Always present (100%)HP:0006956

Lower limb hypertonia

Always present (100%)HP:0006895

Mental and motor retardation

Always present (100%)HP:0001263

Optic nerve dysplasia

Always present (100%)HP:0001093

Short and broad skull

Always present (100%)HP:0000248

Spastic paraplegia

Always present (100%)HP:0001258

Spastic walk

Always present (100%)HP:0002064

Walking on tiptoes

Always present (100%)HP:0030051

Abnormal CNS myelination

Frequent (30-79%)HP:0011400

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Cerebral atrophy

Frequent (30-79%)HP:0002059

Decreased visual acuity

Frequent (30-79%)HP:0007663

Deep set eye

Frequent (30-79%)HP:0000490

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Delayed gross motor development

Frequent (30-79%)HP:0002194

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dilated third ventricle

Frequent (30-79%)HP:0007082

Esophoria

Frequent (30-79%)HP:0025312

Esotropia

Frequent (30-79%)HP:0000565

Flattening of cranial vault

Frequent (30-79%)HP:0001357

Frontal protuberance

Frequent (30-79%)HP:0002007

Hyperopia

Frequent (30-79%)HP:0000540

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Low intelligence

Frequent (30-79%)HP:0001249

Related Conditions

Autosomal dominant complex hereditary spastic paraplegia(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1260134001
UMLS CUI: C4284592
Fully Specified Name: Spastic paraplegia, intellectual disability, nystagmus, obesity 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.