Alpha-thalassemia intellectual disability syndrome linked to chromosome 16

disorder

SNOMED 734349003CUI C0795917

Overview

Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 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.

Delayed ability to walk

Always present (100%)HP:0031936

Hypochromic, microcytic anaemia

Always present (100%)HP:0004840

Mongoloid slant

Always present (100%)HP:0000582

Psychomotor development deficiency

Always present (100%)HP:0001263

Speech delay

Always present (100%)HP:0000750

Thinning of the corpus callosum

Always present (100%)HP:0033725

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Mental deficiency

Very frequent (80-99%)HP:0001249

Microcytic anemia

Very frequent (80-99%)HP:0001935

Tiredness

Very frequent (80-99%)HP:0012378

Absent/underdeveloped ear lobes

Frequent (30-79%)HP:0009906

Bruising susceptibility

Frequent (30-79%)HP:0000978

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Fetal foot inversion

Frequent (30-79%)HP:0001762

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Muscular hypotonia

Frequent (30-79%)HP:0001252

Pectus carinatum

Frequent (30-79%)HP:0000768

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Retrognathia

Frequent (30-79%)HP:0000278

Short toes

Frequent (30-79%)HP:0001831

Undergrowth

Frequent (30-79%)HP:0001508

Flexion contractures

Occasional (5-29%)HP:0001371

Frontal protuberance

Occasional (5-29%)HP:0002007

Hypoplasia of supraorbital margins

Occasional (5-29%)HP:0009891

Related Conditions

Alpha thalassaemia syndrome(parent)

Deletion of part of short arm of chromosome 16(parent)

Developmental hereditary disorder(parent)

Congenital malformation(parent)

Congenital anemia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 734349003
UMLS CUI: C0795917
Fully Specified Name: Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (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.