Create issue ticket

13 Possible Causes for CEP19 Deficiency

  • Oculo-Palato-Cerebral Syndrome

    Obesity due to CEP19 defici... - What do we feel? It's a rare disease which normally occurs in an unknown age, Its prevalence is unknown. It belongs ...[aidweb.org] deficiency 15 Cases 66628 Obesity due to congenital leptin deficiency 30 Cases 217031 Obesity due to MC3R deficiency 34 Cases 71526 Obesity due to pro- opiomelanocortin deficiency[azkurs.org] Carolina macular dystrophy 2 Families 77304 Not NOTCH3-related small vessel disease of the brain 2 Cases 3032 NPHP3-related Meckel-like syndrome 10 Cases 397615 Obesity due to CEP19[azkurs.org]

  • Oculo-Osteo-Cutaneous Syndrome

    deficiency 15 Cases 66628 Obesity due to congenital leptin deficiency 30 Cases 217031 Obesity due to MC3R deficiency 34 Cases 71526 Obesity due to pro- opiomelanocortin deficiency[azkurs.org] Carolina macular dystrophy 2 Families 77304 Not NOTCH3-related small vessel disease of the brain 2 Cases 3032 NPHP3-related Meckel-like syndrome 10 Cases 397615 Obesity due to CEP19[azkurs.org]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    CEP19 Morbid obesity and spermatogenic failure, 615703 (3) PAX6 Morning glory disc anomaly, 120430 BUB1B Mosaic variegated aneuploidy syndrome 1, 257300 CEP57 Mosaic variegated[gsdseq.ir] , type C, 252150 KRT81-KRT83-KRT86 Monilethrix,158000 IRF8 Monocyte and dendritic cell deficiency, recessive, 614894 SH3TC2 Mononeuropathy of the median nerve,mild,613353[gsdseq.ir] TIMM8A Mohr-Tranebjaerg syndrome, 304700 MOCS1 Molybdenum cofactor deficiency, type A, 252150 MOCS2 Molybdenum cofactor deficiency, type B, 252150 GPHN Molybdenum cofactor deficiency[gsdseq.ir]

  • Congenital Hemihypertrophy

    CEP19 Morbid obesity and spermatogenic failure, 615703 (3) PAX6 Morning glory disc anomaly, 120430 BUB1B Mosaic variegated aneuploidy syndrome 1, 257300 CEP57 Mosaic variegated[gsdseq.ir] , type C, 252150 KRT81-KRT83-KRT86 Monilethrix,158000 IRF8 Monocyte and dendritic cell deficiency, recessive, 614894 SH3TC2 Mononeuropathy of the median nerve,mild,613353[gsdseq.ir] TIMM8A Mohr-Tranebjaerg syndrome, 304700 MOCS1 Molybdenum cofactor deficiency, type A, 252150 MOCS2 Molybdenum cofactor deficiency, type B, 252150 GPHN Molybdenum cofactor deficiency[gsdseq.ir]

  • Anonychia Congenita Totalis

    CEP19 Morbid obesity and spermatogenic failure, 615703 (3) PAX6 Morning glory disc anomaly, 120430 BUB1B Mosaic variegated aneuploidy syndrome 1, 257300 CEP57 Mosaic variegated[gsdseq.ir] , type C, 252150 KRT81-KRT83-KRT86 Monilethrix,158000 IRF8 Monocyte and dendritic cell deficiency, recessive, 614894 SH3TC2 Mononeuropathy of the median nerve,mild,613353[gsdseq.ir] TIMM8A Mohr-Tranebjaerg syndrome, 304700 MOCS1 Molybdenum cofactor deficiency, type A, 252150 MOCS2 Molybdenum cofactor deficiency, type B, 252150 GPHN Molybdenum cofactor deficiency[gsdseq.ir]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    deficiency 15 Cases 66628 Obesity due to congenital leptin deficiency 30 Cases 217031 Obesity due to MC3R deficiency 34 Cases 71526 Obesity due to pro- opiomelanocortin deficiency[azkurs.org] Carolina macular dystrophy 2 Families 77304 Not NOTCH3-related small vessel disease of the brain 2 Cases 3032 NPHP3-related Meckel-like syndrome 10 Cases 397615 Obesity due to CEP19[azkurs.org]

  • Autosomal Recessive Mental Retardation Type 46

    […] hypogonadotropic hypogonadism Obesity due to CEP19 deficiency Obesity due to SIM1 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin[se-atlas.de] Non-acquired pituitary hormone deficiency Non-acquired premature ovarian failure Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Normosmic congenital[se-atlas.de] […] pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency[se-atlas.de]

  • Hypocalcemic Vitamin D-Dependent Rickets Type 1B

    […] hypogonadotropic hypogonadism Obesity due to CEP19 deficiency Obesity due to SIM1 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin[se-atlas.de] Non-acquired pituitary hormone deficiency Non-acquired premature ovarian failure Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Normosmic congenital[se-atlas.de] […] pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency[se-atlas.de]

  • Congenital Lipoid Adrenal Hyperplasia

    […] hypogonadotropic hypogonadism Obesity due to CEP19 deficiency Obesity due to SIM1 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin[se-atlas.de] Non-acquired pituitary hormone deficiency Non-acquired premature ovarian failure Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Normosmic congenital[se-atlas.de] […] pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency[se-atlas.de]

  • Hereditary Cryohydrocytosis with Normal Stomatin

    15 Cases Severe intellectual disability and progressive spastic paraplegia Peripheral neuropathy-myopathy-hoarseness397744 hearing loss syndrome 397615 Obesity due to CEP19[slidex.tips] deficiency 401768 Proximal myopathy with extrapyramidal signs 280763 15 Cases 15 Cases 15 Cases 15 Cases Intrauterine growth restriction-short stature-early 436144 15 Cases[slidex.tips] […] ataxia with intellectual 15 Cases disability 329324 Inverse Klippel-Trénaunay syndrome 15 Cases 261236 16p13.11 microdeletion syndrome 15 Cases 280133 Complement component 3 deficiency[slidex.tips]

Further symptoms