Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

disorder

SNOMED 1237418002CUI C4225254

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.

Extensor plantar responses

Always present (100%)HP:0003487

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

No speech development

Always present (100%)HP:0001344

Psychomotor development deficiency

Always present (100%)HP:0001263

Thinning of the corpus callosum

Always present (100%)HP:0033725

Speech difficulties

Very frequent (80-99%)HP:0000750

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Ankle clonus

Frequent (30-79%)HP:0011448

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Brain degeneration

Frequent (30-79%)HP:0012444

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Decreased size of cranium

Frequent (30-79%)HP:0000252

Deglutition disorder

Frequent (30-79%)HP:0002015

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

No development of motor milestones

Frequent (30-79%)HP:0001270

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Sialorrhea

Frequent (30-79%)HP:0002307

Small skull present at birth

Frequent (30-79%)HP:0011451

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Cerebral hypomyelination

Occasional (5-29%)HP:0006808

Clonus

Occasional (5-29%)HP:0002169

Concave bridge of nose

Occasional (5-29%)HP:0005280

Epilepsy

Occasional (5-29%)HP:0001250

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hair-pulling

Occasional (5-29%)HP:0012167

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Congenital malformation of corpus callosum(parent)

Global developmental delay(parent)

Disorder of serine metabolism(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1237418002
UMLS CUI: C4225254
Fully Specified Name: Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly 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.