Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit |
EEC syndrome |
WWOX | TP63 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
WWOX | (0.63) | TP63 | |
Citations in the biomedical literature:
EEC syndrome | |
Very frequent - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Coarse / thick hair - Complete / partial microdontia - Defect / anomaly of lacrimal system - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Multiple caries - Oligodactyly / ectrodactyly of fingers - Oligodactyly / ectrodactyly of toes - Taurodontia - Thick / bushy eyebrows Frequent - Agenesis / hypoplasia / aplasia of kidneys - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cleft lip and palate - Corneal ulceration / perforation - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Photophobia - Skin hypoplasia / aplasia / atrophy - slow growth of the hair - Urethral anomalies / stenosis / posterior urethral valves / megalocystis Occasional - Breast tissue / mammary gland absence / aplasia - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectropion / entropion / eyelid eversion - External ear anomalies - Fine hair - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphoma - Mouth dryness / xerostomia - Proximally set thumb - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thumb hypoplasia / aplasia / absence - Thymic aplasia / hypoplasia - Vesicorenal / vesicoureteral reflux | |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | |
(no data available) |