3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hypogonadism, Male |
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Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Spinocerebellar Ataxia 32 |
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Infertility, Testicular atrophy, Azoospermia, Cognitive impairment |
OMIM:613909 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Spinocerebellar Ataxia Type 32 |
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Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment |
ORPHA:276183 |
Spermatogenic Failure, X-Linked, 2 |
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Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:293964 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hypoglycemia |
OMIM:615158 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Ravine Syndrome |
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Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Somatic sensory dysfu... |
ORPHA:320401 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Short Stature Due To Partial Ghr Deficiency |
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Hypoglycemia |
ORPHA:314802 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia |
ORPHA:366 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia |
OMIM:609016 |
Charcot-Marie-Tooth Disease, Type 4D |
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Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... |
OMIM:601455 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensorineural hearing imp... |
OMIM:125250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Central hypoventilation, Apnea, Respiratory failure, Episodic hypertension |
OMIM:619483 |
Kennedy Disease |
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Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Hypogonadism |
OMIM:618165 |
Dicarboxylic Aminoaciduria |
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Fasting hypoglycemia |
OMIM:222730 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Abnormal cran... |
OMIM:601596 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, D... |
ORPHA:101085 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Respiratory failure, ... |
OMIM:310200 |
Mohr-Tranebjaerg Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Perry Syndrome |
|
Central hypoventilation, Hypotension |
ORPHA:178509 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Decreased nerve conducti... |
ORPHA:206443 |
Adult Krabbe Disease |
|
Ataxia, EEG abnormality, Acroparesthesia, Somatic sensory dysfunction, Prolonged brainstem audito... |
ORPHA:206448 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... |
ORPHA:99027 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Ganglioneuroma |
|
Central hypoventilation, Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Apnea, Hypoxemia, Central hypoventilation, Hypercapnia, Decreased heart rate variability, Nocturn... |
OMIM:209880 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:2942 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Apathy, Decreased serum testosterone concentration, ... |
ORPHA:465508 |
Perry Syndrome |
|
Central hypoventilation, Respiratory insufficiency, Hypoventilation, Respiratory arrest |
OMIM:168605 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Hyperesthesia, Hearing impairment, Prolonged ... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Apnea, Hypoventilation |
OMIM:617143 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... |
ORPHA:70 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... |
ORPHA:909 |
Trisomy 10P |
|
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... |
ORPHA:98915 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Arrhythmia, Reduced left ventricular ejection fraction, Aspiration, Hy... |
ORPHA:258 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:133540 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:216400 |
Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment |
ORPHA:79330 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Sinus bradycardia, Hypoven... |
OMIM:619482 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Sleep apnea, Hypoventilation, Recurrent pneumonia |
OMIM:618493 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Hypoventilation |
ORPHA:610 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Prader-Willi Syndrome |
|
Sleep apnea, Hypoventilation |
OMIM:176270 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Portal hypertension, Hypoventilation, Gastrointestinal hemorrhage, Spontaneo... |
ORPHA:731 |
Charcot-Marie-Tooth Disease Type 4C |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:99949 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Central hypoventilation, Cardiorespiratory arrest, Hypoventilation, Obstructive sleep apnea |
ORPHA:293987 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Central sleep apnea, Aspiration pneumonia, Pulmonic stenosis, Breathing dysregulation, Hyp... |
ORPHA:438213 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |