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79 Possible Causes for Endocrine Cerebroosteodysplasia

  • Ketoadipicaciduria

    Brachyolmia Type 3 Chst3-Related Skeletal Dysplasia Costello Syndrome Craniofacioskeletal Syndrome Dyggve-Melchior-Clausen Disease Dyggve-Melchior-Clausen Syndrome , X-Linked Endocrine-Cerebroosteodysplasia[familydiagnosis.com]

  • Eye Defects - Arachnodactyly - Cardiopathy Syndrome

    Dubowitz Syndrome Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria Endocrine-Cerebroosteodysplasia[familydiagnosis.com]

  • Thanatophoric Dysplasia Glasgow Variant

    Glaucoma Ehlers-Danlos Syndrome , Type VII, Autosomal Recessive Ellis Van Creveld Syndrome Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria Enchondromatosis Endocrine-Cerebroosteodysplasia[familydiagnosis.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Al Gazali type Singh Chhaparwal Dhanda syndrome Spondyloepiphyseal dysplasia tarda, Toledo type Thoraco limb dysplasia Rivera type THREE M SYNDROME 1 THREE M SYNDROME 2 ENDOCRINE-CEREBROOSTEODYSPLASIA[sites.google.com]

  • Ventriculomegaly-Cystic Kidney Disease

    Enamel Hypoplasia , Cataracts , And Aqueductal Stenosis Encephalopathy With Intracranial Calcification , Growth Hormone Deficiency , Microcephaly , And Retinal Degeneration Endocrine-Cerebroosteodysplasia[familydiagnosis.com]

  • Lethal Hemolytic Anemia-Genital Anomalies Syndrome

    Dubowitz Syndrome Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria Endocrine-Cerebroosteodysplasia[familydiagnosis.com] […] mitochondrial, due to ATP synthase deficiency ( TMEM70) Encephalopathy, familial, with neuroserpin inclusion bodies ( SERPINI1) Encephalopathy, neonatal severe ( MECP2) Endocrine-cerebroosteodysplasia[en.praenatal-medizin.de]

  • Nivelon-Nivelon-Mabille Syndrome

    -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3 - abnormal ear shape Elliott-Ludman-Teebi syndrome - abnormal ear shape Emanuel syndrome - absent ear canal Endocrine-Cerebroosteodysplasia[geneticdisorders.info] […] del (X) (pter-p21) - abnormal ears Dup (3) (q21-qter) - abnormal ears Dup (3) (q25-qter) - abnormal ears Dup(1) (q24-q41) - abnormal ears Duplication 8q - Abnormal ears Endocrine-Cerebroosteodysplasia[geneticdisorders.info]

  • Infantile Restrictive Dermopathy

    Endocrine-cerebroosteodysplasia MedGen UID: 390740 • Concept ID: C2675227 • Disease or Syndrome Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features MedGen[ncbi.nlm.nih.gov]

  • Acromesomelic Dysplasia

    […] type II AKT2 OMIM 3 614616 Diarrhea 6 GUCY2C OMIM 4 Dopamine receptor D2, reduced brain density of ANKK1 OMIM 3 314250 Dystonia-Parkinsonism, X-linked TAF1 OMIM 3 612651 Endocrine-cerebroosteodysplasia[gemdock.life.nctu.edu.tw] Dystrophy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy EDMD2 EMD2 181350 Genetic Test Registry Endocrine-Cerebroosteodysplasia[ukgtn.nhs.uk]

  • Dyssegmental Dysplasia-Glaucoma Syndrome

    Glaucoma Ehlers-Danlos Syndrome , Type VII, Autosomal Recessive Ellis Van Creveld Syndrome Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria Enchondromatosis Endocrine-Cerebroosteodysplasia[familydiagnosis.com] Dystrophy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy EDMD2 EMD2 181350 Genetic Test Registry Endocrine-Cerebroosteodysplasia[ukgtn.nhs.uk] Cleft lip/palate-ectodermal dysplasia syndrome) HYAL1 (Mucopolysaccharidosis type IX) HYLS1 (Hydrolethalus syndrome) ICHYN (Ichthyosis, congenital, autosomal recessive) ICK (Endocrine-cerebroosteodysplasia[en.praenatal-medizin.de]

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