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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
14 associated genes
No signs/symptoms info
Boomerang dysplasia
Maternally-inherited Leigh syndrome

FLNB MT-ATP6
MT-CO1
MT-CO2
MT-CO3
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TK
MT-TL1
MT-TV
MT-TW


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
MT-CO2



Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Maternally-inherited Leigh syndrome
MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2
MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
MT-TV MT-TW



Boomerang dysplasia
Maternally-inherited Leigh syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- MILS
- Maternally-inherited Leigh disease
- Maternally-inherited infantile subacute necrotizing encephalopathy

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: mitochondrial inheritance

External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
2 OMIM references -
No MeSH references

Boomerang dysplasia

Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Metacarpal anomalies / Archibald's sign
- Omphalocele / exomphalos
- Polyhydramnios
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Maternally-inherited Leigh syndrome

(no data available)