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Craniolenticulosutural dysplasia
1 OMIM reference -
1 associated gene
32 connected diseases
34 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Left ventricular noncompaction
Charcot-Marie-Tooth disease type 4D
Distal hereditary motor neuropathy type 7
Perry syndrome
46,XY partial gonadal dysgenesis
Aicardi-Goutières syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Bruck syndrome
Chilblain lupus
Congenital myasthenic syndromes with glycosylation defect
Constitutional mismatch repair deficiency syndrome
Distal hereditary motor neuropathy type 5
Estrogen resistance syndrome
Hereditary nonpolyposis colon cancer
Inflammatory myofibroblastic tumor
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Pseudohypoaldosteronism type 2E
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Cerebellar ataxia - hypogonadism
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Gliosarcoma
MMEP syndrome
Osteogenesis imperfecta type 3
Synonym(s):
- Boyadjiev-Jabs syndrome
Classification (Orphanet):
- Rare bone disease
- 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: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SEC23A Q15436610511
Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Brittle hair / distrix / trichorrhexis
- Broad nose / nasal bridge
- Cataract / lens opacification
- Coarse / thick hair
- Complete / partial microdontia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Frontal bossing / prominent forehead
- High nasal bridge
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Large fontanelle / delayed fontanelle closure
- Long philtrum
- Macrostomia / big mouth
- Multiple caries
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Philtrum flat / large / featureless / absent cupidon bows
- Poorly ossified skull / calvarium
- Prominent supraorbital ridge
- Scoliosis
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Flat foot
- Narrow rib cage / thorax
- Narrow / sloping shoulders
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia