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Schizencephaly
1 OMIM reference -
4 associated genes
68 connected diseases
8 signs/symptoms
Disease Type of connection
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Familial porencephaly
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Colobomatous microphthalmia
Familial vascular leukoencephalopathy
Hypoplastic tibiae - postaxial polydactyly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Solitary median maxillary central incisor syndrome
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
Walker-Warburg syndrome
Extraskeletal myxoid chondrosarcoma
Acral dystrophic epidermolysis bullosa
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Foveal hypoplasia - presenile cataract
Generalized dominant dystrophic epidermolysis bullosa
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
WAGR syndrome
Chuvash erythrocytosis
Von Hippel-Lindau disease
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Ménière disease
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Gorlin syndrome
Monosomy 9q22.3
BOR syndrome
Branchio-otic syndrome
Otofaciocervical syndrome
Commissural facial cleft
Congenital stromal corneal dystrophy
Early-onset autosomal dominant Alzheimer disease
Fibronectin glomerulopathy
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Lattice corneal dystrophy type I
Metaphyseal anadysplasia
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL4A1 P02462120130
EMX2 Q04743600035
SHH Q15465600725
SIX3 O95343603714
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