Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome

disorder

SNOMED 702816000CUI C1846058

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.

Central hypotonia

Always present (100%)HP:0001252

Delayed ability to roll over

Always present (100%)HP:0032989

Delayed ability to sit

Always present (100%)HP:0025336

Delayed ability to walk

Always present (100%)HP:0031936

Feeding difficulties

Always present (100%)HP:0011968

Generalized non-motor (absence) seizure

Always present (100%)HP:0002121

Hypotonia, early

Always present (100%)HP:0008947

Hypotonic facies

Always present (100%)HP:0000297

Hypotrophic malar bone

Always present (100%)HP:0000272

Poor eye contact

Always present (100%)HP:0000817

Prolonged seizure

Always present (100%)HP:0002133

Repetitive compulsive behaviour

Always present (100%)HP:0008762

Severe psychomotor retardation

Always present (100%)HP:0011344

Tonic seizure

Always present (100%)HP:0032792

Unusual course of infection

Always present (100%)HP:0032169

Weight less than 3rd percentile

Always present (100%)HP:0004325

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Blepharophimosis

Very frequent (80-99%)HP:0000581

Choreatic disease

Very frequent (80-99%)HP:0002072

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Eclabium of lower lip

Very frequent (80-99%)HP:0000232

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Hypospadias

Very frequent (80-99%)HP:0000047

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

No speech development

Very frequent (80-99%)HP:0001344

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Retarded ossification

Very frequent (80-99%)HP:0002750

Related Conditions

Anomaly of chromosome X(parent)

X-linked recessive hereditary disease(parent)

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

Quick Facts

SNOMED CT: 702816000
UMLS CUI: C1846058
Fully Specified Name: Methyl-cytosine phosphate guanine binding protein-2 duplication 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.