X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome

disorder

SNOMED 732246009CUI C4517296

Overview

X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus 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.

IQ less than 20

Very frequent (80-99%)HP:0002187

Aplasia/Hypoplasia of the optic nerve

Frequent (30-79%)HP:0008058

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Breakdown of light-sensitive cells in back of eye

Frequent (30-79%)HP:0000556

Decreased body height

Frequent (30-79%)HP:0004322

Deep set eye

Frequent (30-79%)HP:0000490

Delayed myelination

Frequent (30-79%)HP:0012448

Diabetes insipidus

Frequent (30-79%)HP:0000873

Elevated amniotic fluid alpha-fetoglobulin

Frequent (30-79%)HP:0004639

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hyperactive deep tendon reflexes

Frequent (30-79%)HP:0006801

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased distance between eyes

Frequent (30-79%)HP:0000316

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low-set ears

Frequent (30-79%)HP:0000369

Macular coloboma

Frequent (30-79%)HP:0001116

Narrow skull shape

Frequent (30-79%)HP:0000268

Optic disc pallor

Frequent (30-79%)HP:0000543

Outward facing eye ball

Frequent (30-79%)HP:0000577

PEG-fed in infancy

Frequent (30-79%)HP:0011471

Psychomotor retardation, profound

Frequent (30-79%)HP:0012736

Sensorineural deafness

Frequent (30-79%)HP:0000407

Severe weight faltering

Frequent (30-79%)HP:0001525

Sluggish pupillary reaction

Frequent (30-79%)HP:0030211

Small nasal alae

Frequent (30-79%)HP:0000430

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Truncal hypotonia

Frequent (30-79%)HP:0008936

Undetectable VEP

Frequent (30-79%)HP:0007965

1-minute APGAR score of 0

Occasional (5-29%)HP:0030927

5-minute APGAR score of 1

Occasional (5-29%)HP:0030921

Related Conditions

Disorder of purine metabolism(parent)

Leber's amaurosis(parent)

Spastic quadriparesis(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Hereditary arginine vasopressin-related polyuria(parent)

Neurohypophyseal diabetes insipidus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 732246009
UMLS CUI: C4517296
Fully Specified Name: X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (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.