Severe intellectual disability and progressive spastic paraplegia

disorder

SNOMED 778011005CUI C4755264

Overview

Severe intellectual disability and progressive spastic paraplegia 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Atony of facial musculature

Frequent (30-79%)HP:0000297

Bulbous nose

Frequent (30-79%)HP:0000414

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased body height

Frequent (30-79%)HP:0004322

Dystonic movements

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Increased reflexes

Frequent (30-79%)HP:0001347

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Problems speaking

Frequent (30-79%)HP:0002465

Rigid dysarthria

Frequent (30-79%)HP:0002464

Sialorrhea

Frequent (30-79%)HP:0002307

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Waddling gait

Frequent (30-79%)HP:0002515

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Dropped arches

Occasional (5-29%)HP:0001763

Eclabium of upper lip

Occasional (5-29%)HP:0010803

Epilepsy

Occasional (5-29%)HP:0001250

High arched palate

Occasional (5-29%)HP:0000218

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Large mouth

Occasional (5-29%)HP:0000154

Narrow forehead

Occasional (5-29%)HP:0000341

Overweight

Occasional (5-29%)HP:0025502

Related Conditions

Severe mental retardation (I.Q. 20-34)(parent)

Complicated hereditary spastic paraplegia(parent)

Developmental hereditary disorder(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 778011005
UMLS CUI: C4755264
Fully Specified Name: Severe intellectual disability and progressive spastic paraplegia (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.