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Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
Antibody Deficiency due to Defect in CD19
Aphalangia Syndactyly Microcephaly
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
Autoinflammation, Immune Dysregulation, and Eosinophilia
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
autosomal dominant familial periodic fever
Bainbridge-Ropers syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Braddock Carey Syndrome +
C9 Deficiency with Dermatomyositis
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cd4+ Lymphocyte Deficiency
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Progeroid Syndrome, Petty Type
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Daish Hardman Lamont Syndrome
Davenport Donlan Syndrome
Deltaretrovirus Infections +
dendritic cell deficiency +
diphthamide deficiency syndrome 1
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dyschondrosteosis and Nephritis
ectodermal dysplasia and immune deficiency +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Familial Behcet-Like Autoinflammatory Syndrome +
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Fetal Growth Retardation +
Forsythe-Wakeling Syndrome
Game Friedman Paradice Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
glycogen storage disease IX +
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Heme Oxygenase 1 Deficiency
hepatic venoocclusive disease with immunodeficiency
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
human immunodeficiency virus infectious disease +
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
Hypoglobulinemia and Absent B Cells
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Inosine Phosphorylase Deficiency, Immune Defect Due To
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Johanson-Blizzard syndrome
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leri-Weill dyschondrosteosis
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
Mental and Growth Retardation with Amblyopia
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly with Cervical Spine Fusion Anomalies
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microdontia Hypodontia Short Stature
Milner Khallouf Gibson Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
NEMO Mutation with Immunodeficiency
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Osteolysis Syndrome, Recessive
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
phagocyte bactericidal dysfunction +
Pili Torti, Developmental Delay, Neurological Abnormalities
Premature Aging, Okamoto Type
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progeria Short Stature Pigmented Nevi
Progressive Lymphoid System Deterioration
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Schaap Taylor Baraitser Syndrome
Schimke immuno-osseous dysplasia
Schimke X-Linked Mental Retardation Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
SHOX-related short stature
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silver-Russell Syndrome 3
Slavotinek Pike Mills Hurst Syndrome
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Tatton-Brown-Rahman syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-linked mental retardation-hypotonic facies syndrome-1
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Zerres Rietschel Majewski Syndrome
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