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Monosomy 9q22.3
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Schizencephaly
1 OMIM reference -
4 associated genes
8 signs/symptoms
Monosomy 9q22.3
Schizencephaly

PTCH1
(UniProt - OMIM)
 COL4A1
(UniProt - OMIM)
EMX2
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SIX3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Monosomy 9q22.3
PTCH1
Schizencephaly
COL4A1 EMX2 SHH SIX3



Monosomy 9q22.3
Schizencephaly

Synonym(s):
- Microdeletion 9q22.3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Corpus callosum / septum pellucidum total / partial agenesis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint

Monosomy 9q22.3
Schizencephaly

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

Frequent
- Advanced bone age
- Bifid / cleft ear lobe / ear lobe pits
- 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
- Thick / wide ear lobe



Very frequent
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Porencephaly

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy