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Gene: Slc25a13 MGI:1354721

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Gene Summary

Name:
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
Synonyms:
citrin,  Ctrn

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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Human diseases caused by Slc25a13 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc25a13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen... OMIM:605814
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hype... ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:247598

The table below shows human diseases predicted to be associated to Slc25a13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t... ORPHA:705
Usher Syndrome Type 1
Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Shuffli... ORPHA:52368
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, Hypertrig... OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... OMIM:617872
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Decreased circulating corti... OMIM:600955
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Decreased ser... OMIM:615238
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... ORPHA:95433
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypercholesterolemia, Hy... OMIM:612526
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hypercholest... OMIM:306000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivit... OMIM:618718
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300425
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Unsteady... OMIM:608636
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Autism
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:607373
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Ataxia ORPHA:71518
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, E... OMIM:619048
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... OMIM:609136
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... ORPHA:199296
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis... ORPHA:435651
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Inability to walk, Hypsarrhythmia, Motor stereotypy, Macrotia OMIM:619877
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Impaired tactile sensation, Ataxia, Overfolded heli... OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Thi... OMIM:614104
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, EEG abnormality, Ataxia, Mot... OMIM:619150
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Inability to walk, Bruxism, Stereotypical hand wringing, Choreoath... OMIM:618497
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis OMIM:608709
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation OMIM:617171
Smith-Magenis Syndrome
Pain insensitivity, Abnormality of the outer ear, Abnormal nerve conduction velocity, Head-bangin... OMIM:182290
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia DECIPHER:45
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating hepatic transaminase concentration, Decreased li... OMIM:246900
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behav... OMIM:620021
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Hyperprolinemia, Type I
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Large earlobe, Inability to walk, Hypsarrhythmia, Multifocal epileptiform di... ORPHA:411986
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy, Macrotia ORPHA:85278
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... ORPHA:101085
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Diabetes mellitus OMIM:615980
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari... OMIM:214800
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, EEG abnormality, Inability to walk OMIM:617820
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... ORPHA:209902
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... OMIM:616483
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Gait disturbance, ... ORPHA:544254
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:617950
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Developmental And Epileptic Encephalopathy 110
Low-set ears, Pain insensitivity, Continuous spike and waves during slow sleep, Bruxism, Chorea, ... OMIM:620149
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy, Inability to walk OMIM:613443
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism ORPHA:631
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment OMIM:616351
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... ORPHA:251282
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Motor ster... OMIM:617807
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Hypergona... ORPHA:79237
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased ... OMIM:212140
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Decreased liver function OMIM:615160
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Sensorineural hearing i... OMIM:600430
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Inability to walk, Dysphagia, Interictal e... OMIM:617802
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Recurrent hand flapping, EEG abnormality, Unsteady gait, Pica OMIM:618480
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Gait disturbance, Motor stereotypy, Macrotia ORPHA:457240
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Hypoglycemia, Increased muscle glycogen content OMIM:300559
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Cir... OMIM:617049
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Self-injurious behavior, Broad-based gait, Cupped ear, Limb ataxia, Recurrent hand ... OMIM:617101
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, EEG abnormality, Ataxia, Motor stereotypy, Choreoathe... OMIM:618218
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Cirrhosis... ORPHA:528
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Motor stereotypy, Macrotia OMIM:618004
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Male hypogonadism, Delayed puberty, Hypogl... OMIM:300148
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep... OMIM:619013
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Inability to walk, Recurrent hand flapping, Gait ataxia, Aggressive behavior,... OMIM:619580
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:289504
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:264580
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Compulsive be... OMIM:618430
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Potocki-Lupski Syndrome
Hearing impairment, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:610883
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... OMIM:618027
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Otofaciocervical Syndrome 1
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment OMIM:166780
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment ORPHA:238750
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos... ORPHA:79083
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:2394
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... ORPHA:397612
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, EEG with continuous slow activity, Inappropriate behavior, Disinhibition, A... ORPHA:275864
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Snijders Blok-Campeau Syndrome
Low-set ears, Broad-based gait, Attention deficit hyperactivity disorder, Unsteady gait, Motor st... OMIM:618205
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:212138
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Bruxism, Inability to walk OMIM:615716
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Difficulty walking, Stenosis of the external aud... OMIM:123450
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Pain insensitivity, Inability to walk, Bruxism, Chorea, Repetitive compulsive behav... OMIM:300260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So... ORPHA:206448
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cir... ORPHA:79086
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia ORPHA:163693
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat... ORPHA:138
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy OMIM:619690
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased... ORPHA:79239
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy OMIM:616579
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatomegaly, ... OMIM:616026
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Laron Syndrome
Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Hypoglycemia ORPHA:633
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Protruding ear, Tongue thrusting, EEG abnormality, Athetosis, Motor stereotypy OMIM:613454
Dysbetalipoproteinemia
Xanthelasma, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:412
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycemia, Elevated circ... OMIM:617093
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... OMIM:618917
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis OMIM:615996
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 38
Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ... OMIM:616393
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Ataxia, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Ritscher-Schinzel Syndrome 4
Macrotia, Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Acut... OMIM:256810
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia OMIM:300486
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment ORPHA:18
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Pa... ORPHA:561854
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Recurrent pancreatitis, Hypertriglyceridem... ORPHA:444490
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Gait imbalance, A... OMIM:619312
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Chronic otitis media, Ataxia ORPHA:10
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function OMIM:618835
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function OMIM:618839
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia OMIM:616881
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy OMIM:617393
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity... OMIM:617061
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, D... ORPHA:95496
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Motor stereotypy ORPHA:2479
Huntington Disease-Like 1
Abnormal head movements, Chorea, Gait ataxia, Dysmetria, Gait disturbance, EEG abnormality, Jerky... ORPHA:157941
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slo... ORPHA:168491
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... OMIM:615453
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... OMIM:600795
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Ogden Syndrome
Low-set ears, Shuffling gait, Abnormal head movements, Macrotia ORPHA:276432
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:245400
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Hearing impairment, Somatic sensory dysfunction, Vertigo, Ab... ORPHA:297
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Attention deficit hyperactivity ... ORPHA:261197
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:300352
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Attention defici... ORPHA:819
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment OMIM:617660
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:615595
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy, Macrotia OMIM:615656
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:95428
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen... OMIM:605814
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Sensorineural hearing impairment, Attention deficit hyperactivity d... ORPHA:435638
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... OMIM:212066
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Inability to walk, EEG with frontal sharp slow waves, Sensorineural hear... ORPHA:457351
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Nonketotic hypogl... ORPHA:99901
Lopes-Maciel-Rodan Syndrome
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation OMIM:617435
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619481
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... OMIM:619695
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hype... ORPHA:247585
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Overfriendliness, Sensorineu... OMIM:616364
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity disorder, M... OMIM:619103
Reni Syndrome
Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia OMIM:617575
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:608836
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Motor stereotypy, Waddling gait ORPHA:280763
Phelan-Mcdermid Syndrome
Broad-based gait, Hearing impairment, Impaired pain sensation, Bruxism, Protruding ear, Aggressiv... OMIM:606232
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Hyperesthesia, Optic atrophy, Hearing... ORPHA:206436
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, H... ORPHA:445038
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Sp... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
Long-Olsen-Distelmaier Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620609
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Propionic Acidemia
Hepatomegaly, Pancreatitis, Hypoglycemia OMIM:606054
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl... OMIM:608594
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:614300
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor... OMIM:620494
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia OMIM:615802
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Hepatocellular carci... OMIM:180860
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:608049
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Stereotypical hand wringing, Posteriorly rotated ears, Hypsarrhythmia, Dysphag... OMIM:619229
Mitochondrial Trifunctional Protein Deficiency 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Splenomegaly, Hepatic steatosis, Pancreatitis, H... ORPHA:280365
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly OMIM:619046
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Increased circulating prolactin concentration ORPHA:35708
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:610198
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Hypoglycemia, Adrenocorti... ORPHA:199299
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Immunodeficiency 10
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:612783
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic peripo... ORPHA:26791
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation