All individuals with variants in gene CPE

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
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00377103 Individual A-1 PubMed: Alsters 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother/sibs F yes Sudan - - - - - BDVS Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Delayed speech and language development HP:0000750, Hypogonadotropic hypogonadism HP:0000044, Amenorrhea HP:0000141, Diabetes mellitus HP:0000819, Coarse facial features HP:0000280, short philtrum HP:0000322 1 1 Moritz Hebebrand
00377105 Individual B-1 PubMed: Durmaz 2021 5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - BDVS Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, motor delay HP:0001270, Delayed speech and language development HP:0000750, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Low hanging columella HP:0009765, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347 1 3 Moritz Hebebrand
00377106 Individual C-1 PubMed: Bosch 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Syria - - - - - BDVS Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Enuresis HP:0000805, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Synophrys HP:0000664, Hypertelorism HP:0000316, Periorbital fullness HP:0000629, Epicanthus HP:0000286, Short palpebral fissures HP:0012745, wide nasal bridge HP:0000431, Low hanging columella HP:0009765, Cupid bow upper lip HP:0002263, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Brachydactyly HP:0001156, Hypoplastic fingernails HP:0001804, Hypoplastic toenails HP:0001792, Fingernail dystrophy HP:0008404, Pes planus HP:0001763 1 2 Moritz Hebebrand
00377108 Individual E-1 PubMed: Bosch 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - BDVS Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Brain imaging abnormality HP:0410263, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Enuresis HP:0000805, Macrocephaly HP:0000256, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Periorbital fullness HP:0000629, narrow palpebral fissures HP:0045025, Low hanging columella HP:0009765, short philtrum HP:0000322, Cupid bow upper lip HP:0002263, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Pes planus HP:0001763 and 'vetricular septal defect, 'intermittent exotropia, hepatic steatosis, esophageal varices, acanthosis nigricans, obstructive sleep apnea, hypertrichosis, pes valgus 1 1 Moritz Hebebrand
00401001 Individual D-1 PubMed: Bosch 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - BDVS see paper; ... 1 1 Moritz Hebebrand
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