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Xq27.3q28 duplication syndrome
1 OMIM reference -
1 associated gene
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Angelman syndrome
1 OMIM reference -
5 associated genes
21 signs/symptoms
Xq27.3q28 duplication syndrome
Angelman syndrome

FMR1
(UniProt - OMIM)
 ATP10A
(UniProt - OMIM)
CYFIP1
(UniProt - OMIM)
OCA2
(UniProt - OMIM)
SNRPN
(UniProt - OMIM)
UBE3A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FMR1
(0.79)
CYFIP1


Citations in the biomedical literature:


Xq27.3q28 duplication syndrome
FMR1
Angelman syndrome
ATP10A CYFIP1 OCA2 SNRPN UBE3A



Xq27.3q28 duplication syndrome
Angelman syndrome

Synonym(s):
- Dup(X)(q27.3q28)
- Trisomy Xq27.3-q28
- Trisomy Xq27.3q28
- Xq27.3-q28 microduplication syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)
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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D017204
COMMON
SIGNS 		- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Xq27.3q28 duplication syndrome
Angelman syndrome

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Late puberty / hypogonadism / hypogenitalism
- Long / large / bulbous nose
- Short stature / dwarfism / nanism
- 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
- Intrauterine growth retardation
- Truncal obesity

Occasional
- Precocious menopause / secondary amenorrhea


Very frequent
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Face / facial anomalies
- Insterstitial / subtelomeric microdeletion / deletion
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Prognathism / prognathia
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Depressed premaxillary region / midface
- Hypereflexia
- Macrostomia / big mouth

Occasional
- Inguinal / inguinoscrotal / crural hernia
- Strabismus / squint