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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
13 OMIM references -
14 associated genes
No signs/symptoms info
Donnai-Barrow syndrome
Autosomal dominant nonsyndromic intellectual deficit

LRP2 CACNG2
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP2
(0.49)
CTNNB1



Citations in the biomedical literature:


Donnai-Barrow syndrome
LRP2
Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4



Donnai-Barrow syndrome
Autosomal dominant nonsyndromic intellectual deficit

Synonym(s):
- DBS/FOAR syndrome
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome
- Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
- FOAR syndrome
- Facio-oculo-acoustico-renal syndrome
- Holmes-Schepens syndrome
- Syndrome of ocular and facial anomalies, telecanthus and deafness

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536390
External references:
13 OMIM references -
No MeSH references

Donnai-Barrow syndrome

Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High hair line (front) / widow peak
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Myopia
- Proteinuria
- Sensorineural deafness / hearing loss
- Short / small nose

Frequent
- Broad forehead
- Diaphragmatic hernia / defect / agenesis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Omphalocele / exomphalos
- Proptosis / exophthalmos
- Retinal detachment
- Umbilical hernia
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of iris
- Intestinal / gut / bowel malrotation
- Retinal / chorioretinal dysplasia / dystrophy
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Stillbirth / neonatal death
- Uterine / uterus / Fallopian tubes anomalies
- Ventricular septal defect / interventricular communication


Autosomal dominant nonsyndromic intellectual deficit

(no data available)