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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Semilobar holoprosencephaly
Acrocapitofemoral dysplasia

CDON IHH
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
(0.52)
IHH



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Acrocapitofemoral dysplasia
IHH



Semilobar holoprosencephaly
Acrocapitofemoral dysplasia

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Acrocapitofemoral dysplasia

Very frequent
- Autosomal recessive inheritance
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Absent / small fingernails / anonychia of hands
- Genu varum
- Lordosis
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Narrow rib cage / thorax
- Pectus carinatum
- Pectus excavatum
- Scoliosis
- Short rib cage / thorax


Semilobar holoprosencephaly

(no data available)