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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
CLN11 disease
Dyssegmental dysplasia, Silverman-Handmaker type

GRN HSPG2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRN
(0.84)
HSPG2



Citations in the biomedical literature:


CLN11 disease
GRN
Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2



CLN11 disease
Dyssegmental dysplasia, Silverman-Handmaker type

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Dyssegmental dysplasia, Silverman-Handmaker type

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Blue sclerae
- Bowed diaphysis / diaphyses / long bones
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Inguinal / inguinoscrotal / crural hernia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death
- Umbilical hernia



CLN11 disease

(no data available)