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Spondylometaphyseal dysplasia - cone-rod dystrophy
1 OMIM reference -
1 associated gene
28 connected diseases
19 signs/symptoms
Disease Type of connection
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Autism spectrum disorder due to AUTS2 deficiency
Autosomal thrombocytopenia with normal platelets
CLN10 disease
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Genetic hyperferritinemia without iron overload
Griscelli disease type 1
Griscelli disease type 3
Haim-Munk syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary fructose intolerance
Hereditary hyperferritinemia with congenital cataracts
Infantile cerebellar-retinal degeneration
Neuroectodermal melanolysosomal disease
Papillon-Lefèvre syndrome
Precursor B-cell acute lymphoblastic leukemia
Retinitis pigmentosa
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Solitary fibrous tumor
Treacher-Collins syndrome
Xq27.3q28 duplication syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PCYT1A P49585123695
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

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

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