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1 OMIM reference -
1 associated gene
19 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Spondylometaphyseal dysplasia - cone-rod dystrophy
Autism spectrum disorder due to AUTS2 deficiency

PCYT1A AUTS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PCYT1A
(0.63)
AUTS2



Citations in the biomedical literature:


Spondylometaphyseal dysplasia - cone-rod dystrophy
PCYT1A
Autism spectrum disorder due to AUTS2 deficiency
AUTS2



Spondylometaphyseal dysplasia - cone-rod dystrophy
Autism spectrum disorder due to AUTS2 deficiency

Synonym(s):
- SMD-CRD

Synonym(s):
- ASD due to AUTS2 deficiency
- AUTS2 syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

Spondylometaphyseal dysplasia - cone-rod dystrophy

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Platyspondyly
- Retinitis pigmentosa / retinal pigmentary changes
- Rhizomelic micromelia
- Short stature / dwarfism / nanism

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Astigmatism
- Hypermetropia
- Lordosis
- Myopia
- Nystagmus
- Photophobia
- Rib structure anomalies
- Scoliosis
- Visual loss / blindness / amblyopia

Occasional
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly


Autism spectrum disorder due to AUTS2 deficiency

(no data available)