Helsmoortel-van der Aa syndrome

disorder

SNOMED 766824003CUI C4014538

Overview

Helsmoortel-van der Aa 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.

Nonprogressive mental retardation

Always present (100%)HP:0001249

Abnormal vocalization

Very frequent (80-99%)HP:0002167

ASD

Very frequent (80-99%)HP:0000729

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Reduced friendship reciprocity

Very frequent (80-99%)HP:0012760

Speech delay

Very frequent (80-99%)HP:0000750

Urinary incontinence

Very frequent (80-99%)HP:0000020

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Abnormalities of the fingers

Frequent (30-79%)HP:0001167

Anxiety disease

Frequent (30-79%)HP:0000739

Autism

Frequent (30-79%)HP:0000717

Bulging forehead

Frequent (30-79%)HP:0011220

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Chronic constipation

Frequent (30-79%)HP:0012450

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dropped arches

Frequent (30-79%)HP:0001763

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Hyperphagia

Frequent (30-79%)HP:0002591

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Nostrils anteverted

Frequent (30-79%)HP:0000463

OCD

Frequent (30-79%)HP:0000722

Oral pharyngeal dysphagia

Frequent (30-79%)HP:0200136

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Protruding lower lip

Frequent (30-79%)HP:0000232

Psychomotor retardation, moderate

Frequent (30-79%)HP:0011343

Related Conditions

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

Pervasive developmental disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 766824003
UMLS CUI: C4014538
Fully Specified Name: Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (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.