Statements (73)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:alsoKnownAs |
gptkb:Wolf-Hirschhorn_syndrome
|
| gptkbp:causedBy |
deletion of short arm of chromosome 4
|
| gptkbp:chromosomeAffected |
gptkb:chromosome_4
|
| gptkbp:diagnosedBy |
gptkb:FISH
chromosomal analysis array CGH |
| gptkbp:feature |
intellectual disability
seizures congenital malformations distinctive facial appearance growth delay |
| gptkbp:firstDescribed |
gptkb:Kurt_Hirschhorn
gptkb:Ulrich_Wolf 1965 |
| https://www.w3.org/2000/01/rdf-schema#label |
4p- syndrome
|
| gptkbp:ICD-10_code |
Q93.4
|
| gptkbp:inheritance |
rarely inherited
usually de novo |
| gptkbp:OMIM |
194190
|
| gptkbp:prevalence |
1 in 50,000 births
|
| gptkbp:symptom |
epilepsy
constipation hypotonia intellectual disability short stature sleep disturbances muscle weakness scoliosis hearing loss heart defects seizures failure to thrive recurrent infections developmental delay microcephaly renal anomalies strabismus clinodactyly congenital heart disease cryptorchidism delayed speech dental anomalies feeding difficulties gastroesophageal reflux hypertelorism ptosis behavioral problems microtia coloboma arched eyebrows growth retardation delayed motor development hypoplastic nails micrognathia camptodactyly downturned mouth skeletal anomalies syndactyly cleft lip and/or palate ambiguous genitalia hypertonia broad nasal bridge high forehead hypospadias preauricular tags prominent glabella urinary tract malformations widely spaced eyes widely spaced nipples |
| gptkbp:bfsParent |
gptkb:Wolf-Hirschhorn_syndrome
|
| gptkbp:bfsLayer |
7
|