Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation

disorder

SNOMED 771303004CUI C1968556

Overview

Severe congenital encephalopathy due to methyl-CpG binding protein 2 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.

Apnea

Very frequent (80-99%)HP:0002104

Encephalopathy

Very frequent (80-99%)HP:0001298

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Respiratory function loss

Very frequent (80-99%)HP:0002093

Decreased size of cranium

Frequent (30-79%)HP:0000252

EEG: localised slow activity

Frequent (30-79%)HP:0010843

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Generalized low muscle tone in neonate

Frequent (30-79%)HP:0008935

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Involuntary movements

Frequent (30-79%)HP:0004305

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Poor sucking

Frequent (30-79%)HP:0002033

Retarded growth

Frequent (30-79%)HP:0001510

Seizures

Frequent (30-79%)HP:0001250

Cerebral atrophy

Occasional (5-29%)HP:0002059

High arched palate

Occasional (5-29%)HP:0000218

More grooves in brain

Occasional (5-29%)HP:0002126

Multifocal EEG abnormality

Occasional (5-29%)HP:0010841

Central hypoventilation

HP:0007110

Electroencephalogram abnormal

HP:0002353

Feeding difficulties in infancy

HP:0008872

Increased reflexes

HP:0001347

Involuntary jerking movements

HP:0001336

Mental and motor retardation

HP:0001263

Mental retardation, severe

HP:0010864

Microcephaly, progressive

HP:0000253

Muscle rigidity

HP:0002063

Poor school performance

HP:0001249

Poor weight gain

HP:0001508

Related Conditions

Hereditary disorder of nervous system(parent)

Neonatal encephalopathy(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

DEE - developmental and epileptic encephalopathy(parent)

Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder(parent)

Quick Facts

SNOMED CT: 771303004
UMLS CUI: C1968556
Fully Specified Name: Severe neonatal onset encephalopathy with microcephaly (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.