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Radial hemimelia, bilateral
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Monosomy 9q22.3
1 associated gene
24 signs/symptoms
Radial hemimelia, bilateral
Monosomy 9q22.3

LMBR1
(UniProt - OMIM)
 PTCH1
(UniProt - OMIM)
SHH
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SHH
(0.59)
PTCH1


Citations in the biomedical literature:


Radial hemimelia, bilateral
LMBR1 SHH
Monosomy 9q22.3
PTCH1



Radial hemimelia, bilateral
Monosomy 9q22.3

Synonym(s):
- Radial longitidinal meromelia, bilateral
Synonym(s):
- Microdeletion 9q22.3
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- 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:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Monosomy 9q22.3

Very frequent
- Epicanthic folds
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperactivity / attention deficit
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Pectus excavatum
- Short neck
- Strabismus / squint
- Tall stature / gigantism / growth acceleration
- Trigonocephaly
- Umbilical hernia

Frequent
- Advanced bone age
- Bifid / cleft ear lobe / ear lobe pits
- Corpus callosum / septum pellucidum total / partial agenesis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Kyphosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thick / wide ear lobe



Radial hemimelia, bilateral

(no data available)