Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

disorder

SNOMED 783198006CUI C5190860

Overview

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 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.

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Abnormal finger chase test

Frequent (30-79%)HP:0001310

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Broad neck

Frequent (30-79%)HP:0000475

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dull intelligence

Frequent (30-79%)HP:0001249

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hypomimic face

Frequent (30-79%)HP:0000338

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Low anterior hairline

Frequent (30-79%)HP:0000294

Mental and motor retardation

Frequent (30-79%)HP:0001263

Puffy cheeks

Frequent (30-79%)HP:0000293

Round, full face

Frequent (30-79%)HP:0000311

Short neck

Frequent (30-79%)HP:0000470

Tooth size discrepancy

Frequent (30-79%)HP:0000678

Wide cranium shape

Frequent (30-79%)HP:0000248

Central apnoea

Occasional (5-29%)HP:0002871

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Seizures

Occasional (5-29%)HP:0001250

Related Conditions

Hereditary sensory and autonomic neuropathy(parent)

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Nerve palsy(parent)

Quick Facts

SNOMED CT: 783198006
UMLS CUI: C5190860
Fully Specified Name: Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.