Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome

disorder

SNOMED 720982007CUI C1846242

Overview

Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis 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.

High urine occult blood

Always present (100%)HP:0000790

Abnormal hair morphology

Very frequent (80-99%)HP:0001595

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Glomerulopathy

Very frequent (80-99%)HP:0100820

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Microhematuria

Very frequent (80-99%)HP:0002907

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Proteinuria

Very frequent (80-99%)HP:0000093

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Decreased projection of midface

Frequent (30-79%)HP:0011800

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Elliptocytosis

Frequent (30-79%)HP:0004445

Hearing impairment

Frequent (30-79%)HP:0000365

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Prominent lips

Frequent (30-79%)HP:0012471

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Renal failure in adulthood

Frequent (30-79%)HP:0000083

Sensorineural deafness

Frequent (30-79%)HP:0000407

Tapering fingers

Frequent (30-79%)HP:0001182

Abnormal aortic valve morphology

Occasional (5-29%)HP:0001646

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal metaphysis morphology

Occasional (5-29%)HP:0000944

Anisometropia

Occasional (5-29%)HP:0012803

Clinodactyly of second toes

Occasional (5-29%)HP:0005824

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Gap between large left and right abdominal muscles

Occasional (5-29%)HP:0001540

Head lag

Occasional (5-29%)HP:0032988

Increased tooth count

Occasional (5-29%)HP:0011069

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Anomaly of chromosome X(parent)

X-linked hereditary disease(parent)

Hereditary ovalocytosis(parent)

Congenital nephritis(parent)

Hereditary nephritis(parent)

Congenital anomaly of the kidney(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720982007
UMLS CUI: C1846242
Fully Specified Name: Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis 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.