Alpha thalassemia X-linked intellectual disability syndrome

disorder

SNOMED 715342005CUI C1845055

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Depressed nasal root/bridge

Always present (100%)HP:0005280

Gaps between teeth

Always present (100%)HP:0000699

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

HbH hemoglobin

Always present (100%)HP:0011903

Low-set ears

Always present (100%)HP:0000369

Mandibular excess

Always present (100%)HP:0000303

Poor sucking

Always present (100%)HP:0002033

Prominent lips

Always present (100%)HP:0012471

Repetitive behaviour Stereotypic behaviour

Always present (100%)HP:0000733

Weak cry

Always present (100%)HP:0001612

Abnormal fontanelle morphology

Very frequent (80-99%)HP:0011328

Abnormality of the male genitalia

Very frequent (80-99%)HP:0010461

Ambiguous external genitalia

Very frequent (80-99%)HP:0000062

Behavioural/Psychiatric abnormality

Very frequent (80-99%)HP:0000708

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Difficulty finding words

Very frequent (80-99%)HP:0002381

Disorder of face

Very frequent (80-99%)HP:0000271

Flat facial shape

Very frequent (80-99%)HP:0012368

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Male pseudohermaphroditism

Very frequent (80-99%)HP:0000037

Poor school performance

Very frequent (80-99%)HP:0001249

Psychomotor retardation, profound

Very frequent (80-99%)HP:0012736

Abnormal Hb

Frequent (30-79%)HP:0011902

Autism

Frequent (30-79%)HP:0000717

Carp-shaped mouth

Frequent (30-79%)HP:0010806

Decreased body height

Frequent (30-79%)HP:0004322

Delayed motor milestones

Frequent (30-79%)HP:0001270

Fetal foot inversion

Frequent (30-79%)HP:0001762

Related Conditions

Alpha thalassaemia syndrome(parent)

X-linked recessive hereditary disease(parent)

Congenital anemia(parent)

Quick Facts

SNOMED CT: 715342005
UMLS CUI: C1845055
Fully Specified Name: Alpha thalassemia X-linked intellectual disability 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.