MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome

disorder

SNOMED 1300128003CUI C5193057

Overview

MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome 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.

Cerebral hypomyelination

Always present (100%)HP:0006808

Decreased body height

Always present (100%)HP:0004322

Decreased size of cranium

Always present (100%)HP:0000252

Delayed CNS myelination

Always present (100%)HP:0002188

Delayed language development

Always present (100%)HP:0000750

Exaggerated acoustic startle response

Always present (100%)HP:0002267

Feeding difficulties

Always present (100%)HP:0011968

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Psychomotor development deficiency

Always present (100%)HP:0001263

Seizures

Always present (100%)HP:0001250

Big cheeks

Frequent (30-79%)HP:0000293

CVI

Frequent (30-79%)HP:0100704

Deglutition disorder

Frequent (30-79%)HP:0002015

Dilatation of lateral cerebral ventricles

Frequent (30-79%)HP:0006956

Drooling

Frequent (30-79%)HP:0002307

EEG: generalized slow activity

Frequent (30-79%)HP:0010845

Epiblepharon

Frequent (30-79%)HP:0011225

Gelastic seizure

Frequent (30-79%)HP:0010821

Humeral hypoplasia

Frequent (30-79%)HP:0005792

Hypertonia

Frequent (30-79%)HP:0001276

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Irritability

Frequent (30-79%)HP:0000737

Nuchal cord

Frequent (30-79%)HP:0012498

Pyrexia

Frequent (30-79%)HP:0001945

Short femur

Frequent (30-79%)HP:0003097

Short umbilical cord

Frequent (30-79%)HP:0001196

Sudden loss of muscle tone

Frequent (30-79%)HP:0010819

Tapering fingers

Frequent (30-79%)HP:0001182

Thick eyebrow

Frequent (30-79%)HP:0000574

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Leucodystrophy(parent)

Global developmental delay(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Inherited disorder of folate metabolism(parent)

Multiple system malformation syndrome(parent)

Epilepsy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1300128003
UMLS CUI: C5193057
Fully Specified Name: Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy 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.