Overview
SOX5 haploinsufficiency 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.
Cognitive delay
Very frequent (80-99%)HP:0001263
Delayed ability to walk
Very frequent (80-99%)HP:0031936
Malformation of face
Very frequent (80-99%)HP:0001999
Specific learning disability
Very frequent (80-99%)HP:0001328
Mental retardation, mild
Frequent (30-79%)HP:0001256
Muscular hypotonia
Frequent (30-79%)HP:0001252
Squint
Frequent (30-79%)HP:0000486
Abnormal social interactions
Occasional (5-29%)HP:0012433
Abnormal temper tantrums
Occasional (5-29%)HP:0025160
ASD
Occasional (5-29%)HP:0000729
Ataxia
Occasional (5-29%)HP:0001251
Broad, upturned nose
Occasional (5-29%)HP:0000455
Decreased head circumference
Occasional (5-29%)HP:0040195
Decreased size of cranium
Occasional (5-29%)HP:0000252
Fallen arches
Occasional (5-29%)HP:0001763
Feeding difficulties
Occasional (5-29%)HP:0011968
Fused neck
Occasional (5-29%)HP:0002949
hyperkinetic disorder
Occasional (5-29%)HP:0000752
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Large halluces
Occasional (5-29%)HP:0001847
Long fingers
Occasional (5-29%)HP:0100807
Mild growth deficiency
Occasional (5-29%)HP:0001530
Optic atrophy
Occasional (5-29%)HP:0000648
Overlapping toes
Occasional (5-29%)HP:0001845
Palpebronasal fold
Occasional (5-29%)HP:0000286
Prominent lips
Occasional (5-29%)HP:0012471
Pyramidal tract dysfunction
Occasional (5-29%)HP:0002493
Repetitive behaviour Stereotypic behaviour
Occasional (5-29%)HP:0000733
Scoliosis
Occasional (5-29%)HP:0002650
Seizures
Occasional (5-29%)HP:0001250
Quick Facts
- SNOMED CT
- 1251453008
- UMLS CUI
- C4225202
- Fully Specified Name
- Lamb Shaffer 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.