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Schizencephaly
1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Recessive dystrophic epidermolysis bullosa-generalized other
1 associated gene
30 signs/symptoms
Schizencephaly
Recessive dystrophic epidermolysis bullosa-generalized other

COL4A1
(UniProt - OMIM)
 COL7A1
(UniProt - OMIM)
EMX2
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SIX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL4A1
(0.75)
COL7A1


Citations in the biomedical literature:


Schizencephaly
COL4A1 EMX2 SHH SIX3
Recessive dystrophic epidermolysis bullosa-generalized other
COL7A1



Schizencephaly
Recessive dystrophic epidermolysis bullosa-generalized other

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
- Autosomal recessive dystrophic epidermolysis bullosa, generalized other
- Generalized mitis RDEB
- RDEB generalisata mitis
- RDEB, non-Hallopeau-Siemens type
- RDEB-O
- RDEB-generalized other
- Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin 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: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Schizencephaly
Recessive dystrophic epidermolysis bullosa-generalized other

Very frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Porencephaly
- Strabismus / squint

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus



Very frequent
- Abnormal fingernails
- Abnormal scarring / cheloids / hypertrophic scars
- Abnormal toenails
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Ankyloglossia / lingual synechiae
- Anus / rectum anomalies
- Constipation
- Enanthema / aphtosa / aphta / leukoplakia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Microstomia / little mouth
- Multiple caries
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Occasional
- Alopecia
- Anaemia
- Anomalies of eyelids, eyelashes and lacrimal system
- Corneal ulceration / perforation
- Cryptophthalmia / ankyloblepharon / synblepharon
- Ectropion / entropion / eyelid eversion
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hair and scalp anomalies
- Late puberty / hypogonadism / hypogenitalism
- Musculo-tendinous retractions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Skin hypoplasia / aplasia / atrophy
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Visual loss / blindness / amblyopia