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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 associated gene
24 signs/symptoms
Semilobar holoprosencephaly
Monosomy 9q22.3

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


COMMON
GENES
PTCH1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Monosomy 9q22.3



Semilobar holoprosencephaly
Monosomy 9q22.3

Synonym(s):
(no synonyms)

Synonym(s):
- Microdeletion 9q22.3

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



Semilobar holoprosencephaly

(no data available)