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2 OMIM references -
2 associated genes
44 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Geleophysic dysplasia
Spinocerebellar ataxia type 7

ADAMTSL2 ATXN7
FBN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBN1
(0.63)
ATXN7



Citations in the biomedical literature:


Geleophysic dysplasia
ADAMTSL2 FBN1
Spinocerebellar ataxia type 7
ATXN7



Geleophysic dysplasia
Spinocerebellar ataxia type 7

Synonym(s):
- Geleophysic dwarfism

Synonym(s):
- Autosomal dominant spinocerebellar ataxia type 7
- Cerebellar syndrome - pigmentary maculopathy
- SCA7

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C537677
External references:
1 OMIM reference -
No MeSH references

Geleophysic dysplasia

Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Cardiac valvulopathy
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hypertelorism
- Long philtrum
- Metacarpal anomalies / Archibald's sign
- Philtrum flat / large / featureless / absent cupidon bows
- Restricted joint mobility / joint stiffness / ankylosis
- Round face
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Thin / retracted lips

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Death in infancy
- Epiphyseal anomaly
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intrauterine growth retardation
- Mitral valve atresia / stenosis / narrowing
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Platyspondyly
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Round ear
- Short limbs / micromelia / brachymelia
- Thick skin / pachydermia / orange skin
- tricuspid valve atresia / stenosis / narrowing

Occasional
- Apnea / sleep apnea
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Larynx / laryngeal stenosis / atresia
- Pulmonary hypertension
- Tracheal atresia / stenosis


Spinocerebellar ataxia type 7

(no data available)