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2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
2-Methylacetoacetyl CoA Thiolase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-Hydroxyisobutyric Aciduria
5-Oxoprolinase Deficiency
adenylosuccinase lyase deficiency
Al Gazali Sabrinathan Nair Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aminoacylase 1 Deficiency
Antibody Deficiency due to Defect in CD19
argininosuccinic aciduria
aromatic L-amino acid decarboxylase deficiency
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Asparagine Synthetase Deficiency
autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammation, Immune Dysregulation, and Eosinophilia
autoinflammatory disease +
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Beaulieu-Boycott-Innes Syndrome
Beta-Aminoisobutyric Acid, Urinary Excretion of
beta-ketothiolase deficiency
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachycephaly, trichomegaly, and developmental delay
branched-chain keto acid dehydrogenase kinase deficiency
C9 Deficiency with Dermatomyositis
carboxypeptidase N deficiency
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cd4+ Lymphocyte Deficiency
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellofaciodental syndrome
cerebral creatine deficiency syndrome +
Chitayat Moore Del Bigio Syndrome
Chitty Hall Webb Syndrome
chromosome 13q14 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 3q29 microdeletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital glutamine deficiency
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Davenport Donlan Syndrome
Deltaretrovirus Infections +
dendritic cell deficiency +
Der Kaloustian Mcintosh Silver Syndrome
developmental and epileptic encephalopathy 116
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
Developmental Delay with or without Dysmorphic Facies and Autism
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Developmental Delay, Language Impairment, and Ocular Abnormalities
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dicarboxylic aminoaciduria
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
ectodermal dysplasia and immune deficiency +
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
familial hypertryptophanemia
Forsythe-Wakeling Syndrome
GABA aminotransferase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
Gastrointestinal defects and immunodeficiency syndrome +
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glutamate Monosodium Sensitivity
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
Glycinuria with or without Oxalate Urolithiasis
Glycosylphosphatidylinositol Biosynthesis Defect 25
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
hepatic venoocclusive disease with immunodeficiency
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
human immunodeficiency virus infectious disease +
Hyperleucine-Isoleucinemia
hypermethioninemia due to adenosine kinase deficiency
Hypertaurinuric Cardiomyopathy
Hypoglobulinemia and Absent B Cells
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Ichthyosis, Split Hairs, and Amino Aciduria
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 121 with autoinflammation
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS
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 A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Inosine Phosphorylase Deficiency, Immune Defect Due To
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Isobutyryl-CoA Dehydrogenase Deficiency
isolated sulfite oxidase deficiency
KOHLSCHUTTER-TONZ SYNDROME-LIKE
leucine-sensitive hypoglycemia of infancy
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
Lysine Malabsorption Syndrome
lysinuric protein intolerance
Maleylacetoacetate Isomerase Deficiency
maple syrup urine disease +
Mercaptolactate-Cysteine Disulfiduria
Methionine Malabsorption Syndrome
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonyl-CoA Epimerase Deficiency +
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, seizures, and developmental delay
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
mitochondrial DNA depletion syndrome 5
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mosaic Variegated Aneuploidy Syndrome 5
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopathy due to Malate-Aspartate Shuttle Defect
N-Acetylaspartate Deficiency
NEMO Mutation with Immunodeficiency
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
neurodevelopmental disorder with spastic paraplegia and microcephaly
Non-Lissencephalic Cortical Dysplasia
nuclear type mitochondrial complex I deficiency 20
Obesity, Hyperphagia, and Developmental Delay
Oliver-McFarlane syndrome
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
osteosclerotic metaphyseal dysplasia
oxoglutarate dehydrogenase deficiency
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Partington Anderson Syndrome
Periventricular Nodular Heterotopia 7
phagocyte bactericidal dysfunction +
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Lymphoid System Deterioration
Rajab Interstitial Lung Disease with Brain Calcifications +
Refsum Disease with Increased Pipecolic Acidemia
Roifman-Chitayat Syndrome
Schimke immuno-osseous dysplasia
Short Stature, Developmental Delay, and Congenital Heart Defects
SHORT STATURE-MICROGNATHIA SYNDROME
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Snijders Blok-Fisher Syndrome
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
succinic semialdehyde dehydrogenase deficiency
systemic primary carnitine deficiency disease
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
Thumb Agenesis, Short Stature, and Immunodeficiency
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Tryptophanuria with Dwarfism
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
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