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DYRK1A-related intellectual disability syndrome

disorder
SNOMED 1179301003CUI C5568143

Overview

DYRK1A-related intellectual disability 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.

Appendicular hypertonia
Always present (100%)HP:0002509
Birth length less than 3rd percentile
Always present (100%)HP:0003561
Decreased volume of upper lip
Always present (100%)HP:0000219
Down-slanting palpebral fissure
Always present (100%)HP:0000494
Downturned corners of mouth
Always present (100%)HP:0002714
Generalised decreased muscle tone
Always present (100%)HP:0001290
Global developmental delay, severe
Always present (100%)HP:0011344
Low-set ears
Always present (100%)HP:0000369
Optic atrophy
Always present (100%)HP:0000648
Recurrent middle ear infection
Always present (100%)HP:0000403
Sacral dimple
Always present (100%)HP:0000960
Thickened helices
Always present (100%)HP:0000391
Acromesomelia
Very frequent (80-99%)HP:0003086
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Deformity of face
Very frequent (80-99%)HP:0001999
Delayed language development
Very frequent (80-99%)HP:0000750
Dull intelligence
Very frequent (80-99%)HP:0001249
Feeding difficulties
Very frequent (80-99%)HP:0011968
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Gait disturbance
Very frequent (80-99%)HP:0001288
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Anxiety disease
Frequent (30-79%)HP:0000739
ASD
Frequent (30-79%)HP:0000729
Ataxia
Frequent (30-79%)HP:0001251
Autism
Frequent (30-79%)HP:0000717
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Birth weight less than 10th percentile
Frequent (30-79%)HP:0001518
Bulbous nasal tip
Frequent (30-79%)HP:0000414
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119

Related Conditions

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion(child)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1179301003
UMLS CUI
C5568143
Fully Specified Name
Dual specificity tyrosine phosphorylation regulated kinase 1A-related 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.