ODCs

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Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Spondylometaphyseal dysplasia - cone-rod dystrophy

1 OMIM reference -
1 associated gene
19 signs/symptoms

Xq27.3q28 duplication syndrome

Spondylometaphyseal dysplasia - cone-rod dystrophy

FMR1

(UniProt - OMIM)

PCYT1A

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FMR1	(0.63)	PCYT1A

Citations in the biomedical literature:

Xq27.3q28 duplication syndrome		Spondylometaphyseal dysplasia - cone-rod dystrophy
	Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome		Synonym(s): - SMD-CRD

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		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		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Short stature / dwarfism / nanism

Xq27.3q28 duplication syndrome		Spondylometaphyseal dysplasia - cone-rod dystrophy
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long / large / bulbous nose - Small foot - Small hand / acromicria - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Thin / retracted lips - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Decreased body hair / axillar / pubic hairlessness - Delayed bone age - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Intrauterine growth retardation - Truncal obesity Occasional - Precocious menopause / secondary amenorrhea		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 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