Intellectual disability, alacrima, achalasia syndrome

disorder

SNOMED 763741001CUI C4706563

Overview

Intellectual disability, alacrima, achalasia 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.

Decreased height of philtrum

Always present (100%)HP:0000322

Divergent strabismus

Always present (100%)HP:0020049

Downturned corners of mouth

Always present (100%)HP:0002714

Generalised decreased muscle tone

Always present (100%)HP:0001290

Horizontal nystagmus

Always present (100%)HP:0000666

Inverted triangular face

Always present (100%)HP:0000325

Large nose

Always present (100%)HP:0000448

Narrowing of the esophagus

Always present (100%)HP:0010450

Respiratory distress, neonatal

Always present (100%)HP:0002643

Speech delay

Always present (100%)HP:0000750

Absent tear secretion

Very frequent (80-99%)HP:0000522

Delayed milestone development

Very frequent (80-99%)HP:0012434

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Low intelligence

Very frequent (80-99%)HP:0001249

Nonverbal

Very frequent (80-99%)HP:0001344

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Achalasia

Frequent (30-79%)HP:0002571

Deafness

Frequent (30-79%)HP:0000365

High frontal hairline

Frequent (30-79%)HP:0009890

Hypernasal voice

Frequent (30-79%)HP:0001611

Muscular hypotonia

Frequent (30-79%)HP:0001252

Squint

Frequent (30-79%)HP:0000486

Unequal pupil dilatation

Frequent (30-79%)HP:0009916

Ataxia

Occasional (5-29%)HP:0001251

Decrease in blood pressure upon standing up

Occasional (5-29%)HP:0001278

Deglutition disorder

Occasional (5-29%)HP:0002015

Depressed philtrum

Occasional (5-29%)HP:0002002

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Enuresis

Occasional (5-29%)HP:0000805

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Related Conditions

Alacrima(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763741001
UMLS CUI: C4706563
Fully Specified Name: Intellectual disability, alacrima, achalasia 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.