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SOX5 haploinsufficiency syndrome

disorder
SNOMED 1251453008CUI C4225202

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.

Delayed ability to walk
Very frequent (80-99%)HP:0031936
Distortion of face
Very frequent (80-99%)HP:0001999
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Specific learning disability
Very frequent (80-99%)HP:0001328
Central hypotonia
Frequent (30-79%)HP:0001252
Mental retardation, mild
Frequent (30-79%)HP:0001256
Squint
Frequent (30-79%)HP:0000486
Abnormal social interactions
Occasional (5-29%)HP:0012433
Abnormal temper tantrums
Occasional (5-29%)HP:0025160
Ataxia
Occasional (5-29%)HP:0001251
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Broad, upturned nose
Occasional (5-29%)HP:0000455
Decreased head circumference
Occasional (5-29%)HP:0040195
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Decreased size of cranium
Occasional (5-29%)HP:0000252
Dropped arches
Occasional (5-29%)HP:0001763
Feeding difficulties
Occasional (5-29%)HP:0011968
Fused neck
Occasional (5-29%)HP:0002949
Hyperactive behaviour
Occasional (5-29%)HP:0000752
Large halluces
Occasional (5-29%)HP:0001847
Long fingers
Occasional (5-29%)HP:0100807
Mild postnatal growth retardation
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
Scoliosis
Occasional (5-29%)HP:0002650
Seizures
Occasional (5-29%)HP:0001250
Small chin
Occasional (5-29%)HP:0000331

Related Conditions

12p12.1 microdeletion syndrome(child)
Developmental and speech delay due to SRY-box 5 deficiency(child)
Global developmental delay(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)

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.