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3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
Allan-Herndon-Dudley syndrome
Alpha-Fetoprotein Deficiency
Alpha-Fetoprotein, Hereditary Persistence of
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Angiotensin I-Converting Enzyme, Benign Serum Increase
Arene Oxide Detoxification Defect
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
Atonic-Astatic Syndrome of Foerster
autosomal recessive intellectual developmental disorder 73
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
bilirubin metabolic disorder +
Biventricular Hypertrophy
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
central pontine myelinolysis
cerebral amyloid angiopathy +
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
CHITOTRIOSIDASE DEFICIENCY
Combined Congenital Deficiency of Intrinsic Factor and R Binder
Combined Defect of Growth Factors
Combined Exocrine Pancreatic Insufficiency
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
combined oxidative phosphorylation deficiency 3
Congenital disorder of deglycosylation +
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deoxyribose-5-Phosphate Aldolase Deficiency
Der Kaloustian Mcintosh Silver Syndrome
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Efavirenz, Poor Metabolism of
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
glycogen storage disease IX +
Glycoprotein Storage Disease
Glycosylphosphatidylinositol Biosynthesis Defect 25
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Grubben de Cock Borghgraef Syndrome
Hereditary Hyperbilirubinemia +
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
hypertrichotic osteochondrodysplasia Cantu type
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
immunoglobulin light chain amyloidosis
Infantile Hypotonia with Psychomotor Retardation +
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Inosine Triphosphatase Deficiency
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Left Ventricular Hypertrophy +
Leptin Receptor Deficiency
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Marchiafava-Bignami Disease
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Metabolic Brain Diseases, Inborn +
metal metabolism disorder +
Methemoglobin Reductase Deficiency
Methylmalonyl-Coenzyme A Mutase Deficiency
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
mitochondrial encephalomyopathy +
mitochondrial metabolism disease +
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
multiple congenital anomalies-hypotonia-seizures syndrome +
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
Nonfunctional L-Gulonolactone Oxidase
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
osteosclerotic metaphyseal dysplasia
overhydrated hereditary stomatocytosis
permanent neonatal diabetes mellitus +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
phosphoglycerate kinase 1 deficiency
plasma protein metabolism disease +
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Poor Metabolism of Proguanil
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
purine-pyrimidine metabolic disorder +
pyridoxamine 5'-phosphate oxidase deficiency
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
Right Ventricular Hypertrophy +
scalp-ear-nipple syndrome
Schofer Beetz Bohl Syndrome
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Snijders Blok-Fisher Syndrome
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
TANGO2-related metabolic encephalopathy and arrythmias
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
thiopurine S-methyltransferase deficiency +
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
type 1 diabetes mellitus 2
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
variant ABeta2M amyloidosis
vitamin metabolic disorder +
Weinstein Kliman Scully Syndrome
Wiedemann Oldigs Oppermann Syndrome
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