X-linked intellectual disability Van Esch type

disorder

SNOMED 718914002CUI C4305072

Overview

X-linked intellectual disability Van Esch type 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.

Mental and motor retardation

Always present (100%)HP:0001263

Nonprogressive mental retardation

Always present (100%)HP:0001249

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Childhood attention deficit/hyperactivity disorder

Very frequent (80-99%)HP:0007018

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased function of male gonad

Very frequent (80-99%)HP:0000026

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased testicular size

Very frequent (80-99%)HP:0008734

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Microtia

Very frequent (80-99%)HP:0008551

NIDDM

Very frequent (80-99%)HP:0005978

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Reduced friendship reciprocity

Very frequent (80-99%)HP:0012760

Retractile testis

Very frequent (80-99%)HP:0012646

Retrognathia

Very frequent (80-99%)HP:0000278

Undergrowth

Very frequent (80-99%)HP:0001508

Decreased testosterone

Frequent (30-79%)HP:0040171

Gonadotropin excess

Frequent (30-79%)HP:0000837

Isolated hypogonadotropic hypogonadism

Frequent (30-79%)HP:0000044

Muscular hypotonia

Frequent (30-79%)HP:0001252

Abnormal connection between trachea and esophagus

Occasional (5-29%)HP:0002575

ASD

Occasional (5-29%)HP:0000729

Atria septal defect

Occasional (5-29%)HP:0001631

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Craniosynostosis of coronal suture

Occasional (5-29%)HP:0004440

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Related Conditions

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Congenital disease(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718914002
UMLS CUI: C4305072
Fully Specified Name: X-linked intellectual disability Van Esch type (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.