Informaţii despre

Nume Smith-Lemli-Opitz Syndrome
Pagina Web www.malacards.org
Clasificare globală Malacards Boli fetale; Boli genetice; Boli metabolice; Boli rare
Clasificari ICD10 Congenital malformation syndromes predominantly associated with short stature
Clasificare anatomică Malacards Boli ale ochiului; Boli endocrine; Boli nefrologice (ale rinichilor); Boli neuronale; Boli osoase; Boli respiratorii

Vezi şi

Boli A-Z 46,xy Sex Reversal 3 5-Alpha Reductase Deficiency Achalasia Aging Alacrima, Achalasia, and Mental Retardation Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Aniridia 1 Anorexia Nervosa 1 Aortic Atherosclerosis Arthrochalasia Ehlers-Danlos Syndrome Ataxia Neuropathy Spectrum Atherosclerosis Susceptibility Autism Autism Spectrum Disorder Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Brain Germinoma Cataract Central Nervous System Germinoma Cerebritis Cerebrotendinous Xanthomatosis Cholestasis Chondrodysplasia Punctata 2, X-Linked Dominant Chondrodysplasia Punctata Syndrome Chromosomal Triplication Chromosome 16p13.3 Deletion Syndrome, Proximal Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Conjunctivitis Defective Apolipoprotein B-100 Desmosterolosis Down Syndrome Dwarfism Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome Familial Hyperlipidemia Fanconi Anemia, Complementation Group E Frontonasal Dysplasia 1 Gastric Antral Vascular Ectasia Germ Cells Tumors Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies Greenberg Dysplasia Hemorrhage, Intracerebral Hepatitis Holoprosencephaly Homozygous Familial Hypercholesterolemia Hydrolethalus Syndrome 1 Hyperalphalipoproteinemia 1 Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Familial Hyperlipidemia, Familial Combined Hyperlipoproteinemia, Type Iii Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Hypobetalipoproteinemia, Familial, 1 Hypolipoproteinemia Hypotonia Immune Suppression Kniest Dysplasia Lathosterolosis Leukoencephalopathy, Hereditary Diffuse, with Spheroids Lipoprotein Glomerulopathy Malignant Glioma Malignant Hyperthermia Microcephaly Mixed Germ Cell Tumor Neurodegeneration with Brain Iron Accumulation 2a Neuronitis Opitz-Gbbb Syndrome Opitz Gbbb Syndrome, Type I Pallister-Hall Syndrome Pancreas, Annular Polydactyly Polykaryocytosis Inducer Polyneuropathy Precocious Puberty Pseudohermaphroditism Pulmonary Hypertension Pulmonary Vein Stenosis Renal Dysplasia Renal Hypoplasia Retinal Degeneration Retinitis Sclerocornea Sitosterolemia Skeletal Dysplasias Spondyloocular Syndrome Tetraamelia Syndrome, Autosomal Recessive Three M Syndrome 1 Wolf-Hirschhorn Syndrome Xanthomatosis X-Linked Chondrodysplasia Punctata