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Monosomy 9q22.3
1 associated gene
27 connected diseases
24 signs/symptoms
Disease Type of connection
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Gorlin syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial isolated dilated cardiomyopathy
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Syndromic multisystem autoimmune disease due to Itch deficiency
Colobomatous microphthalmia
Hypoplastic tibiae - postaxial polydactyly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Schizencephaly
Solitary median maxillary central incisor syndrome
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
46,XY complete gonadal dysgenesis
46,XY gonadal dysgenesis - motor and sensory neuropathy
Acrocapitofemoral dysplasia
Brachydactyly type A1
Synonym(s):
- Microdeletion 9q22.3
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PTCH1 Q13635601309
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