Optic Atrophy, Hereditary, Leber ND4 Oral Ulcer EDN1 Orofacial Cleft 5 MSX1 Orofaciodigital Syndromes C2CD3 Osler-Rendu-Weber Syndrome 2 ACVRL1 Osteoglophonic Dwarfism FGFR1 Osteoporosis ENO1 Ovarian Cysts IHH Ovarian Epithelial Cancer TP53 Pain EDN1 Pallister-Hall [selfdecode.com]

Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall [se-atlas.de]

A1 and B Sanger Sequencing of the GLI3 gene Polydactyly, preaxial type II Sanger Sequencing of the LMBR1 gene Polydactyly, preaxial, type IV Sanger Sequencing of the GLI3 gene Polydactyly-Syndactyly-Triphalangism group: Greig cephalopolysyndactyly; Pallister-Hall [pentacorelab.hu]

[…] congenita 1,167200 KRT17 Pachyonychia congenita 2,167210 KRT6A Pachyonychia congenita 3,167200 KRT6B Pachyonychia congenita Jackson-Lawler type,615726 TNFRSF11B Paget disease of bone 5, juvenile-onset,239000 SQSTM1 Paget disease of bone, 602080 GLI3 Pallister-Hall [gsdseq.ir]

[…] syndrome 1 253310 603371 Autosomal recessive GLI2 2q14.2 Holoprosencephaly 9 610829 165230 Autosomal dominant GLI2 2q14.2 Culler-Jones syndrome 615849 165230 Autosomal dominant GLI3 7p14.1 {Hypothalamic hamartomas, somatic} 241800 165240 GLI3 7p14.1 Pallister-Hall [mnglabs.com]

Dyschromatosis Symmetrica Hereditaria 1 ADAR Dyslipidemias APOB Emphysema TP53 Epilepsy GRIN2B Erythrokeratodermia Variabilis GJB3 Eye Diseases RPGRIP1L Familial Dilated Cardiomyopathy TTN Familial Wilms Tumor 2 H19 Fanconi Anemia, Complementation Group N PALB2 Fatigue [selfdecode.com]

seizures plus, type 5, susceptibility to} 613060 137163 Autosomal dominant GABRG2 5q34 Epilepsy, generalized, with febrile seizures plus, type 3 611277 137164 Autosomal dominant GABRG2 5q34 Febrile seizures, familial, 8 611277 137164 Autosomal dominant [mnglabs.com]

seizures, familial, 3A, 604403 SCN9A Febrile seizures,familial,3B,613863 GPR98 Febrile seizures, familial, 4, 604352 GABRG2 Febrile seizures,familial,8,611277 CPA6 Febrile seizures,familial,11,614418 MYH9 Fechtner syndrome,153640 MYCN Feingold syndrome [gsdseq.ir]

seizures plus, type 3 Sanger Sequencing of the SCN1A gene Epilepsy, generalized, with febrile seizures plus, type 3 Sanger Sequencing of the GABRG2 gene Epilepsy, generalized, with febrile seizures plus, type 7 Sanger Sequencing of the SCN9A gene Epilepsy [pentacorelab.hu]

seizures plus [GEFS ] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B)Pan143Craneosinostosis ligado al FGFR y su diagnóstico diferencial [incl. síndrome de Pfeiffer, síndrome de Apert, síndrome de Crouzon, síndrome de Beare-Stevenson, sinostosis [bredagenetics.com]

Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) GABRG2 G:137164. Febrile seizures, familial, 8, 611277 (3) GABRG2 G:137164. {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3) GABRG3 G:600233. . GABRP G:602729. . [usegalaxy.org]