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Gillespie syndrome

disorder
SNOMED 253176002CUI C0431401

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.

Absent pectoralis major muscle
Always present (100%)HP:0009751
Areflexia in lower limbs
Always present (100%)HP:0002522
Atrophic cerebellum
Always present (100%)HP:0001272
Bilateral fourth metatarsal shortening
Always present (100%)HP:0004689
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Decreased visual acuity
Always present (100%)HP:0007663
Delay in head control
Always present (100%)HP:0002421
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to stand
Always present (100%)HP:0025335
Delayed ability to walk
Always present (100%)HP:0031936
Delayed gross motor development
Always present (100%)HP:0002194
Delayed motor milestones
Always present (100%)HP:0001270
Depression
Always present (100%)HP:0000716
Dysmorphic facies
Always present (100%)HP:0001999
Gait disturbance
Always present (100%)HP:0001288
Gallstones
Always present (100%)HP:0001081
Gastroesophageal reflux disease
Always present (100%)HP:0002020
Generalised decreased muscle tone
Always present (100%)HP:0001290
Growth failure
Always present (100%)HP:0001510
Hunched back
Always present (100%)HP:0002808
Imperforate hymen
Always present (100%)HP:0030011
Inability to walk
Always present (100%)HP:0002540
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Iris hypoplasia
Always present (100%)HP:0007676
Jerking
Always present (100%)HP:0001336
Mental retardation, mild
Always present (100%)HP:0001256
Mental retardation, severe
Always present (100%)HP:0010864
Moderate mental retardation
Always present (100%)HP:0002342
Poor vision
Always present (100%)HP:0000505
Precocious puberty
Always present (100%)HP:0000826

Related Conditions

Multiple system malformation syndrome(parent)
Cerebellar ataxia(parent)
Aniridia(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
253176002
UMLS CUI
C0431401
Fully Specified Name
Gillespie 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.