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Spinocerebellar ataxia type 12
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Baller-Gerold syndrome
1 OMIM reference -
1 associated gene
43 signs/symptoms
Spinocerebellar ataxia type 12
Baller-Gerold syndrome

PPP2R2B
(UniProt - OMIM)
 RECQL4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PPP2R2B
(0.68)
RECQL4


Citations in the biomedical literature:


Spinocerebellar ataxia type 12
PPP2R2B
Baller-Gerold syndrome
RECQL4



Spinocerebellar ataxia type 12
Baller-Gerold syndrome

Synonym(s):
- SCA12
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536788
Baller-Gerold syndrome

Very frequent
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Large fontanelle / delayed fontanelle closure
- Oligodactyly / ectrodactyly of fingers
- Proptosis / exophthalmos
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence
- Turricephaly / oxycephaly / acrocephaly

Frequent
- Anus ectopia / anteposition / malposition
- Bowed diaphysis / diaphyses / long bones
- High vaulted / narrow palate
- Intrauterine growth retardation
- Malabsorption / chronic diarrhea / steatorrhea
- Metacarpal anomalies / Archibald's sign
- Microstomia / little mouth
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Patella absent / abnormal (excluding luxation)
- Wrist / carpal anomalies

Occasional
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Broad forehead
- Cardiac septal defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- High nasal bridge
- Hypertelorism
- Hypotelorism
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Lymphoma
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Narrow nasal root
- Nystagmus
- Scoliosis
- Telangiectasic erythema / poikiloderma
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter
- Urogenital fistulae
- Vesicorenal / vesicoureteral reflux


Spinocerebellar ataxia type 12

(no data available)