Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome

disorder

SNOMED 1172624000CUI C5567477

Overview

Arginine-glutamic acid dipeptide repeats-related neurodevelopmental 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.

Broad thumbs

Always present (100%)HP:0011304

Chordee

Always present (100%)HP:0000041

Complex partial seizures

Always present (100%)HP:0002384

Double ring sign

Always present (100%)HP:0000609

Hydramnios

Always present (100%)HP:0001561

Single flexion crease

Always present (100%)HP:0000954

Small kidneys

Always present (100%)HP:0000089

Abnormal eye

Frequent (30-79%)HP:0000478

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Cardiac anomaly

Frequent (30-79%)HP:0001627

Decreased body height

Frequent (30-79%)HP:0004322

Feeding difficulties

Frequent (30-79%)HP:0011968

Growth delay as children

Frequent (30-79%)HP:0008897

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Mental and motor retardation

Frequent (30-79%)HP:0001263

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor school performance

Frequent (30-79%)HP:0001249

Reduced cerebral white matter volume

Frequent (30-79%)HP:0034295

Thinning of the corpus callosum

Frequent (30-79%)HP:0033725

Abnormal cranial nerve physiology

Occasional (5-29%)HP:0031910

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Accelerated linear growth

Occasional (5-29%)HP:0000098

Anisometropia

Occasional (5-29%)HP:0012803

Annular pancreas

Occasional (5-29%)HP:0001734

Anomalous pulmonary venous return

Occasional (5-29%)HP:0010772

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Autoagression

Occasional (5-29%)HP:0100716

Behavioural disorders

Occasional (5-29%)HP:0000708

Blepharophimosis

Occasional (5-29%)HP:0000581

Related Conditions

Autosomal dominant hereditary disorder(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Multiple system malformation syndrome(parent)

Congenital anomaly of central nervous system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172624000
UMLS CUI: C5567477
Fully Specified Name: Arginine-glutamic acid dipeptide repeats-related neurodevelopmental 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.