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Gene: Mcoln1 MGI:1890498

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mucolipin 1
Synonyms:
2210015I05Rik,  TRPML1,  mucolipidin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mcoln1 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 Mcoln1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucolipidosis Iv
Optic atrophy, Spastic tetraplegia, Achlorhydria, Retinal degeneration, Babinski sign, Hypergastr... OMIM:252650
Mucolipidosis Type Iv
Aplasia/Hypoplasia of the abdominal wall musculature, Retinopathy, Gait disturbance, Ataxia, Abno... ORPHA:578

The table below shows human diseases predicted to be associated to Mcoln1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastric Cancer
Stomach cancer OMIM:613659
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Urinary incontinence, Ankle clonus, Tip-t... OMIM:604360
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Poor fine motor coordina... ORPHA:171442
Severe Canavan Disease
Gastroesophageal reflux, Spasticity, Vomiting, Gastrostomy tube feeding in infancy, Poor suck, Op... ORPHA:314911
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Babinski sign, Lower limb ... OMIM:614322
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Optic atrophy, Failure to thrive, Increased level of methylsuccinic acid in urine... ORPHA:26792
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Flexion contracture, Optic atrophy, Truncal ataxia, Abnormal mitochondria in muscle t... OMIM:252011
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Gait disturbance, Failure to thrive, Feeding difficulties, Lethargy ORPHA:26
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Tip-toe gait, Amyotrophy of an... OMIM:160500
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Small for gestational age, Retin... OMIM:275400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Truncal ataxia, Spastic paraplegia, Hypopigmentation of the fundus, Decreased liver function, Let... OMIM:238970
Congenital Myopathy 2A, Typical, Autosomal Dominant
High palate, Facial palsy, Rigidity, Feeding difficulties in infancy, Dilated cardiomyopathy, EMG... OMIM:161800
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Parkinsonism, Retinal ... OMIM:204200
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Difficulty walking, Peripheral ... OMIM:613710
Glut1 Deficiency Syndrome 1
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... OMIM:606777
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Progressive spastic paraplegia, Abnormal pyramidal sign, Optic atrophy, Supraventricular arrhythm... ORPHA:320360
Developmental And Epileptic Encephalopathy 92
Spasticity, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Feeding difficulties, Letha... OMIM:617829
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysdiadochokinesis, Premature graying of hair, Dilated cardiomyopathy... OMIM:619903
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal upper limb amyotrophy, Macular degeneration, Distal lower limb muscle weakness, Distal low... OMIM:619764
Mitochondrial Complex I Deficiency, Nuclear Type 6
Abnormal pyramidal sign, Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Nausea and vomiting, Coma, Abdominal pain, Choreoathetosis, Failure to thrive, Ano... ORPHA:79312
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Malabsorption, Abdominal pain, Cachexia, Ataxia, Abdominal distention, Malnutrition,... OMIM:613662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Loss of ambulation, Calf... OMIM:604286
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Flexion contracture, Optic atrophy, Retinal degeneration, Macular degeneration, Myocl... OMIM:256730
Developmental And Epileptic Encephalopathy 40
Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Feeding ... OMIM:617065
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Brain-Lung-Thyroid Syndrome
Abnormal cardiac septum morphology, Choreoathetosis, Compensated hypothyroidism, Hypoparathyroidi... ORPHA:209905
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... OMIM:619565
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Failure to thrive, Hypertonia, Tetraplegia, Lethargy OMIM:274270
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Spastic ... OMIM:270700
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Retinal degeneration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambul... OMIM:256731
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Bicuspid aortic valve, Retinal degeneration, Dilated cardiomyop... OMIM:615981
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, 3-Methylglutaconic aciduria, Diaphragmatic eventration, Optic atrophy, Nonc... OMIM:610198
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... ORPHA:71277
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Variegate Porphyria
Increased fecal protoporphyrin concentration, Vomiting, Constipation, Paralysis OMIM:176200
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Rod-cone dystrophy, Tip-toe gait, Spasticity, Inability to walk, Weight loss,... ORPHA:216866
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Optic atrophy, Muscular dystrophy, Gait disturbance... ORPHA:272
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration, Myoclonus, Ataxia OMIM:204500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertr... ORPHA:206559
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy, Gait disturbance, Anorexia ORPHA:79283
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... OMIM:164500
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Retinal degene... OMIM:615993
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion co... ORPHA:206546
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Gne Myopathy
Hypothyroidism, Muscle fiber inclusion bodies, Steppage gait, Shoulder girdle muscle atrophy, Sca... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... OMIM:612937
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrap... ORPHA:101150
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Vomiting, Ataxia ORPHA:622
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Poor suck, Type 1 fibers relatively smaller than type 2 fibers, Dilated ca... OMIM:300580
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98853
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... OMIM:255160
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Aminoaciduria, Ventricular septal defect, Cone/cone-rod dystrophy, Optic... OMIM:249270
Non-Specific Early-Onset Epileptic Encephalopathy
Gastroesophageal reflux, Spasticity, Limb hypertonia, Optic atrophy, Rigidity, Retinal degenerati... ORPHA:442835
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, ... OMIM:250620
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Abnormality of retinal pi... ORPHA:2515
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Abnormal intestine morphology, Myopathy, Megacy... ORPHA:977
Oculorenocerebellar Syndrome
Spastic diplegia, Retinal degeneration, Choreoathetosis, Glomerular sclerosis, Nephropathy OMIM:257970
Mitochondrial Complex I Deficiency, Nuclear Type 5
Vomiting, Optic atrophy, Ataxia, Babinski sign, Episodic vomiting, Failure to thrive, Dysphagia, ... OMIM:618226
Leukoencephalopathy With Vanishing White Matter 1
Primary gonadal insufficiency, Spasticity, Decreased circulating progesterone, Optic atrophy, Gai... OMIM:603896
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Folinic Acid-Responsive Seizures
Chorea, Optic atrophy, Ataxia, Abdominal distention, Spastic tetraparesis, Difficulty walking, Hy... ORPHA:79097
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Nausea and vomiting, Coma, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Ren... ORPHA:27
Melas
Hypothyroidism, Diarrhea, Optic atrophy, Abnormal mitochondria in muscle tissue, Wolff-Parkinson-... ORPHA:550
Alg6-Cdg
Rod-cone dystrophy, Increased circulating androgen concentration, Retinal degeneration, Macroglos... ORPHA:79320
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Diarrhea, Cardiac arrest... ORPHA:49827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Optic atrophy, Nausea and vomiting, Coma, Choreoathetosis, Hemiplegia/hemiparesis, Renal ... ORPHA:289916
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Type II diabetes mellitus, Unsteady gait, Pigmentary retinopathy, Cardiomyo... OMIM:520000
Dopa-Responsive Dystonia
Urinary incontinence, Generalized dystonia, Vomiting, Inability to walk, Parkinsonism, Rigidity, ... ORPHA:255
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Babinski sign, Truncal titubation, Action tremor, Hypertonia, Dysphagia, Frequ... OMIM:607483
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Tip-toe gait, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Poor... ORPHA:746
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Urinary incontinence, Spasticity, Tip-toe gait, Optic atrophy, Progressive gait atax... ORPHA:309256
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dilated cardiomyopathy, Congestive heart fail... ORPHA:324588
Mucolipidosis Iv
Optic atrophy, Spastic tetraplegia, Achlorhydria, Retinal degeneration, Babinski sign, Hypergastr... OMIM:252650
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Diarrhea, Weight loss, Projectile vomiting, Abdom... OMIM:620045
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Skeletal musc... OMIM:616896
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Lethargy, Dystonia OMIM:618224
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Multiple Carboxylase Deficiency
Alopecia, Optic atrophy, Coma, Ataxia, Organic aciduria, Spastic paraparesis, Feeding difficultie... ORPHA:148
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Increased connective tissue, Dila... OMIM:616827
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Axonal regeneration, Par... OMIM:605285
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Drowsiness, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, ... ORPHA:276575
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Diarrhea, Dilated cardiomyopathy... OMIM:601419
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Muscle fiber atrophy, Shuffling gait, Optic atrophy, Facial palsy, P... ORPHA:254886
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormal mitral valve morphology, Abnormality of the gastroin... ORPHA:1876
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Drowsiness, Syncope, Maternal diabetes, Large for gestational age, Hyperinsulin... ORPHA:276580
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Urinary incontinence, Abnormal posturing, Chorea, Poor suck, Resting tremor, Parkins... ORPHA:225147
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Cachexia, Abnormality of the extraocular muscles, Dysphagia, Atrophic muscularis propri... ORPHA:298
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Clumsiness, EMG: myopathic abnormalities, Distal upper ... ORPHA:603
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Dilated cardiomyopathy ORPHA:34587
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Leigh Syndrome With Cardiomyopathy
Retinopathy, Optic atrophy, Renal dysplasia, Hypertrophic cardiomyopathy, Hypertonia, Dysphagia, ... ORPHA:70474
Citrullinemia Type I
Gastroesophageal reflux, Spasticity, Ankle clonus, Vomiting, Hepatic failure, Coma, Torticollis, ... ORPHA:247525
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Autosomal Dominant Cerebellar Ataxia
Akinesia, Tongue atrophy, Pseudobulbar paralysis, Macular degeneration, Choreoathetosis, Upper mo... ORPHA:99
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Hsd10 Mitochondrial Disease
Spasticity, Optic atrophy, Spastic tetraplegia, Retinal degeneration, Choreoathetosis, Hypertroph... OMIM:300438
Visceral Myopathy 1
Vesicoureteral reflux, Vomiting, Diarrhea, Urinary retention, Megaduodenum, Aganglionic megacolon... OMIM:155310
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Babinski sign, Sensory axonal neuropathy, Frequent falls, Dysphagia, Scapular winging, Gait ataxi... OMIM:607459
Galactosemia
Hepatic failure, Vomiting, Gait imbalance, Diarrhea, Postural tremor, Abnormality of extrapyramid... ORPHA:352
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Flexion contracture, Distal lower limb amyotrophy, Optic atrophy, T... ORPHA:99947
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, High palate, Weakness of orbicularis oculi muscle, Abnormal mitochondria... ORPHA:59135
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Ventricular arrhythmia, Facial diplegia, Palpitations, Frequent falls, Hypertonia... ORPHA:254892
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Waddling gait, Myopath... OMIM:602541
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Abnormality of the lowe... ORPHA:391428
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Dilated cardiomyopathy, Cong... OMIM:606703
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Vomiting, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Dil... OMIM:614299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Hypertrophic cardiomyopathy, Lethargy, Bradykinesia OMIM:618683
Familial Visceral Myopathy
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Hypogonadism, Abnormality of the kidney, Retinal degeneration, Renal cyst, Ob... OMIM:615982
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypertrophic cardiomyopathy, Decreased liver function, Feeding difficulties, Lethargy, Dy... OMIM:246900
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Gastroesophageal reflux, Reduced subcutaneous adipose tissue, Decreased body weight, Dilated card... OMIM:618097
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Multiple lipomas, Increased adipose tissue, Gait disturbance, Hypertension, Congestive heart fail... ORPHA:1349
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Drowsiness, Small for gestational age, Syncope, Maternal diabetes, Large for ge... ORPHA:324575
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Cerebral ischemia, Poor appetite, Delirium, Coma, Drowsiness, Reye syndrome-l... ORPHA:927
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Spasticity, Chorea, O... ORPHA:309271
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Freq... OMIM:300718
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancreatic... ORPHA:276556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Recurrent urinary tract infections, Abdominal distention, Megacystis, Nephrolith... OMIM:619365
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Ketonuria, Myoclonus, Left ventricular hypertrophy, Dilated cardiomyopathy,... OMIM:619167
Cyclic Vomiting Syndrome
Vomiting, Abdominal pain, Ataxia, Anorexia, Gastrointestinal dysmotility, Nausea, Lethargy, Cardi... OMIM:500007
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention ORPHA:103909
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Nausea ... ORPHA:2241
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Vomiting, Feeding difficulties in infancy, Failure to thrive, Polyuria, Const... OMIM:304800
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipation, Megacystis,... OMIM:125800
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Spasticity, Optic atrophy, Progressive gait ataxia, Clumsiness, Abdominal d... ORPHA:309263
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal pyramidal sign, Generalized amyotrophy, Abnormal EKG, Progressive gait ataxia, Lower lim... ORPHA:1177
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Drowsiness, Coma, Hyperinsulinemic hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Proximal Myopathy With Extrapyramidal Signs
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... ORPHA:401768
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Retinopathy, Malabsorption, Type II diabetes mellitus, Hypertension, Congestive h... ORPHA:225
Congenital Myopathy 4A, Autosomal Dominant
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... OMIM:255310
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism, Short stature, Ataxia, Postnatal growth retardation OMIM:616113
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia... ORPHA:42
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Truncal ataxia, Retinal atrophy, Oculomotor apraxia, Difficulty walking, Dysphagi... ORPHA:412057
Porphyria, Acute Hepatic
Vomiting, Respiratory paralysis, Paralysis OMIM:612740
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Small for gestational age, Dilated cardiomyopathy, Congestive heart failure, Fail... OMIM:609015
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Tube feeding, Parkinsonism, Myoclonic spasms, Retinal degeneration,... ORPHA:79264
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Calf muscle hypertrophy, Exercise-induced myoglobinuria, Congenital muscular dystro... OMIM:607155
Pyruvate Dehydrogenase E3 Deficiency
Spasticity, Vomiting, Abnormal cardiac ventricular function, Hepatic failure, Increased urine alp... ORPHA:2394
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Abnormal pyramidal sign, Gait imbalance, High palate, Weakness of facial musculat... ORPHA:329336
Polymyositis
Gastroesophageal reflux, Abnormal atrioventricular conduction, Weight loss, Abnormal mitral valve... ORPHA:732
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Vomiting, Diarrhea, Coma, Reduced muscle carnitine level, Congestive ... OMIM:212140
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Difficulty walking, Distal lower limb muscle weakness OMIM:608634
Pontocerebellar Hypoplasia, Type 6
Gastroesophageal reflux, Spasticity, Narrow palate, Poor suck, Appendicular spasticity, Upper lim... OMIM:611523
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Early Myoclonic Encephalopathy
Poor suck, Myoclonus, Dysphagia, Feeding difficulties, Lethargy ORPHA:1935
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
Childhood-Onset Nemaline Myopathy
Poor fine motor coordination, Flexion contracture, Facial diplegia, Nemaline bodies, Difficulty w... ORPHA:171439
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Feingold Syndrome 2
Intestinal atresia, Short stature, Postnatal growth retardation OMIM:614326
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Coma, Gait disturbance, Ataxia, Babinski sign, Spastic tetraparesis, Failure to thriv... OMIM:615838
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Failure to thrive, Hypertrophic cardiomyopathy, Dysphagia, Lethargy, Ragg... OMIM:613561
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Gait imbalance, Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexio... OMIM:618120
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Diarrhea, Delirium, Fluctuations in consciousness, Abdominal pain, Increased fecal ... ORPHA:100924
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Spasticity, Abnormal pyramidal sign, High palate, Cerebral palsy, Feeding diffi... ORPHA:765
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Feeding difficulties in infancy, Dicarboxylic aciduria, Dilated cardiomyopath... ORPHA:71212
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Thyroiditis, Celiac disease, Delayed puberty, Decreased serum insulin-like growth ... OMIM:618985
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerative vitreoretinopathy, Skel... OMIM:607598
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Mitral valve prolapse, Retinal pigment... OMIM:145350
Adiposis Dolorosa
Constipation, Obesity, Painful subcutaneous lipomas, Abdominal distention OMIM:103200
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Morm Syndrome
Retinal atrophy, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Micropenis ORPHA:75858
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Lacticaciduria, Multiple glomerular cysts, Hypertrophic cardiomyopathy, Hypertonia... ORPHA:255210
Classic Galactosemia
Hepatic failure, Vomiting, Gait imbalance, Diarrhea, Postural tremor, Clumsiness, Gait disturbanc... ORPHA:79239
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Neoplasm of the large inte... ORPHA:157798
Acute Intermittent Porphyria
Diarrhea, Respiratory paralysis, Pseudobulbar paralysis, Hepatocellular carcinoma, Ileus, Coma, A... ORPHA:79276
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... ORPHA:247234
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, 3-Methylglutaconic aciduria, Generalized amyotrophy, Diaphragmatic eventration, O... ORPHA:66634
Central Diabetes Insipidus
Diabetes insipidus, Diarrhea, Weight loss, Nausea and vomiting, Nocturia, Failure to thrive, Anor... ORPHA:178029
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity, Peripher... OMIM:608895
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Typhoid
Diarrhea, Coma, Cardiac arrest, Abdominal pain, Ataxia, Epistaxis, Tremor, Constipation, Gastroin... ORPHA:99745
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, Lethargy, ... OMIM:233910
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Insulinoma
Hyperinsulinemia, Fluctuations in consciousness, Coma, Abnormality of the pancreatic islet cells,... ORPHA:97279
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... ORPHA:103907
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ataxia, Abnormal renal physio... OMIM:266500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Glycerol Kinase Deficiency
Small for gestational age, Adrenal insufficiency, Muscular dystrophy, Adrenocortical hypoplasia, ... OMIM:307030
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, M... ORPHA:2924
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Nephronophthisis 15
Nephronophthisis, Retinal degeneration, Obesity OMIM:614845
Niemann-Pick Disease, Type A
Spasticity, Vomiting, Inability to walk, Rigidity, Feeding difficulties in infancy, Failure to th... OMIM:257200
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Atresia Of Small Intestine
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Failure to thrive, Intes... ORPHA:1201
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy, Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Generalized amyotrophy, Poor appetite, Dilated cardiomyopathy, Weakness of facial muscu... ORPHA:352447
Neuronopathy, Distal Hereditary Motor, Type Viib
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abnormal lower m... OMIM:607641
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dysphagia OMIM:300857
Friedreich Ataxia
Poor fine motor coordination, Inability to walk, Optic atrophy, Babinski sign, Sensory axonal neu... ORPHA:95
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:602271
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Multiple joint contractures, Inability to walk, Writer's cramp... OMIM:128100
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Congenital Tufting Enteropathy
Elevated fecal osmolality, Vomiting, Chronic diarrhea, Abnormal large intestinal mucosa morpholog... ORPHA:92050
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Babinski sign, Hypertrophic cardiomyopathy, Abnormal left ventri... ORPHA:3208
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Aceruloplasminemia
Chorea, Blepharospasm, Retinal degeneration, Torticollis, Abnormality of extrapyramidal motor fun... OMIM:604290
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Generalized amyotrophy, Dilated cardiomyopathy, Hypergonadotropic hypogonadism,... OMIM:615084
Huntington Disease-Like 1
Gait ataxia, Poor fine motor coordination, Abnormal posturing, Chorea, Weight loss, Clumsiness, G... ORPHA:157941
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hepatocellular carcinoma, Abdominal distention, Failure to thrive, Hyp... ORPHA:369
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... ORPHA:263665
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Congenital Hypothyroidism
Hypotension, Abnormal pericardium morphology, Hypothyroidism, Optic atrophy, Hypogonadism, Anteri... ORPHA:442
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Lethargy, Cardiomyopathy ORPHA:254857
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ankle clonus, Truncal ataxia, Progressive gait ataxia, Macular degeneration, Limb ataxia, Dysmetr... ORPHA:284289
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Developmental And Epileptic Encephalopathy 41
Spasticity, Flexion contracture, Inability to walk, Babinski sign, Tetraparesis, Nephrocalcinosis... OMIM:617105
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Dysphagia, Feeding difficulti... OMIM:617282
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Ab... ORPHA:96
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Lethal Congenital Contracture Syndrome 7
Knee flexion contracture, Distal arthrogryposis, Paralysis, Facial diplegia, Skeletal muscle atro... OMIM:616286
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystonia OMIM:312170
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber atrophy, Optic atrophy, Truncal ataxia, Babinski sign, Sensory axonal neuropathy, St... OMIM:258450
Secondary Short Bowel Syndrome
Central hypothyroidism, Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Weight loss, Small in... ORPHA:95427
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Periph... OMIM:614895
Syndromic Recessive X-Linked Ichthyosis
Short stature, Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism ORPHA:281090
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Al Amyloidosis
Abnormal autonomic nervous system physiology, Hypertrophic cardiomyopathy, Dysphagia, Abnormal P ... ORPHA:85443
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Akinesia, Optic atrophy, Feeding difficulties in infancy, Choreoathetosis, Babinsk... OMIM:234200
Primary Angiitis Of The Central Nervous System
Pseudopapilledema, Parkinsonism, Transient ischemic attack, Hemiparesis, Paraparesis, Cerebral va... ORPHA:140989
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Failure to thrive, Lethargy, Hypertonia, Hyperkinetic movements, Methylmalonic ... OMIM:236270
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Feeding difficulties in infancy, ... ORPHA:226313
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf m... OMIM:310200
Idiopathic Intracranial Hypertension
Vomiting, Obesity, Nausea, Lethargy, Papilledema ORPHA:238624
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Myopathy, Dilated cardiomyopathy ORPHA:154
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, Dilated cardiomyopathy, Ataxia, Spastic paraplegia OMIM:619688
Hypercalcemia, Infantile, 1
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis,... OMIM:143880
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hypogonadotropic hypogonadism, Leth... OMIM:602390
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Poor fine motor coordination, Hemolytic-uremic syndrome, Glomerulopathy, Delirium, Optic atrophy,... ORPHA:79282
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Athyreosis
Hypothyroidism, Macroglossia, Abdominal distention, Feeding difficulties, Constipation, Thyroid a... ORPHA:95713
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Coma, Hemiplegia/hemiparesis, Hype... ORPHA:156
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Atresia Of Urethra
Vesicoureteral reflux, Pulmonary insufficiency, Renal dysplasia, Recurrent urinary tract infectio... ORPHA:105
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Cone/cone-rod dystrophy, Hypogonadism, Stage 5 chronic kidney disease, Retina... OMIM:615994
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Bradycardi... OMIM:618815
Alternating Hemiplegia Of Childhood
Diarrhea, Oculomotor apraxia, Episodic hemiplegia, Choreoathetosis, Abnormal autonomic nervous sy... ORPHA:2131
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad eyebrow, Macular degeneration, High palate OMIM:612948
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Flexion contracture, Peripheral axonal degeneration, Frequent falls, C... ORPHA:101097
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Propionic Acidemia
Cerebellar hemorrhage, Vomiting, Limb hypertonia, Poor appetite, Coma, Feeding difficulties in in... OMIM:606054
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Aceruloplasminemia
Gait ataxia, Chorea, Blepharospasm, Akinesia, Parkinsonism, Rigidity, Retinal degeneration, Torti... ORPHA:48818
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... OMIM:619079
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy, Woolly hair ORPHA:65282
Isolated Complex I Deficiency
Proximal tubulopathy, Vomiting, Abnormal mitochondria in muscle tissue, Ataxia, Failure to thrive... ORPHA:2609
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Thyroid Hemiagenesis
Macroglossia, Abdominal distention, Constipation, Thyroid agenesis, Umbilical hernia ORPHA:95719
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Vomiting, Myoclonus, Ataxia, Lethargy OMIM:618225
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progressive cereb... ORPHA:101112
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Oculopharyngodistal Myopathy
Tibialis muscle weakness, Abnormality of masseter muscle, High palate, Abnormality of orbicularis... ORPHA:98897
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Abnormal pyramidal sign, Spastic gait, Coma, Poor coordination, Protein avoidanc... ORPHA:415
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... ORPHA:563
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Renal cortical hyperechogenicity, Anuria... OMIM:619351
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... OMIM:615237
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Peroneal muscle atrophy, Weakness of long finger ... ORPHA:609
Vici Syndrome
Abnormal posturing, Ocular albinism, Hypopigmentation of the fundus, Dysphagia, Cleft palate, Dec... OMIM:242840
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Abnormal pyramidal sign, Ataxia, Failure to thrive, Weakness of facial muscu... OMIM:201470
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Vomiting, Diarrhea, Drowsiness, Glycosuria, Coma, Large for gestational age, Hy... ORPHA:263455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Optic atrophy, Calf muscle hypertrophy, Congen... OMIM:253800
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Adrenal insufficiency, Lacticaciduria, Hypertrophic cardiomyopathy, Anorexia, Rena... OMIM:619386
Wolfram Syndrome
Cardiomyopathy, Diabetes insipidus, Optic atrophy, Recurrent urinary tract infections, Malabsorpt... ORPHA:3463
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Lower limb muscle weakness, Hemiparesis, Feeding difficulties in infancy, Gait dis... ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Lower limb muscle weakness, Parkinsonism, Retinal degeneration, Paraparesis, P... ORPHA:2822
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate ... OMIM:605711
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Limb dystonia, Choreoathetosis, Bull's eye maculopathy, Spasticity, Rod-cone dystr... ORPHA:157850
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Diarrhea, Limb... OMIM:608643
Nephronophthisis 14
Nephronophthisis, Retinal degeneration, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Fair hair, Cleft palate, Sparse eyelashes, Vesicoureteral reflux, Sparse axillar... OMIM:604292
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Synophrys, Abnormal auditory evoked potentials, Macular atrophy, Attenuatio... OMIM:619260
Chylomicron Retention Disease
Retinopathy, Vomiting, Diarrhea, Fat malabsorption, Steatorrhea, EMG: myopathic abnormalities, Ab... ORPHA:71
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Vomiting, Dicarboxylic aciduria, Dilated cardiomyopathy ORPHA:79159
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Clasp-knife sign, Decreased motor nerve conduction velocity, Gait d... ORPHA:101076
Diarrhea 12, With Microvillus Atrophy
Vomiting, Villous atrophy, Dependency on parenteral nutrition, Microvillus inclusions, Abdominal ... OMIM:619445
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Rod-cone dystrophy, Retinal atrophy, Rigidity, Ataxia, Sensory axonal neuropathy OMIM:610127
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia ORPHA:230800
Glycine Encephalopathy
Myoclonus, Lethargy, Hyperglycinuria OMIM:605899
Horner Syndrome, Congenital
Paralysis OMIM:143000
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... ORPHA:160148
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Neurogenic bladder, Involuntary movements, Macular degeneration, Myoclon... OMIM:619780
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Paralysis, Myocardial infarction, Abnormality of venous physiology,... ORPHA:90064
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Oculomotor apraxia, Retinal dystrophy, Ataxia, Head titubation ORPHA:370022
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Elevated urine suberic acid level, Chronic constipation, Abdominal pain, Dila... OMIM:248360
Lead Poisoning
Tubulointerstitial nephritis, Poor fine motor coordination, Vomiting, Small for gestational age, ... ORPHA:330015
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Chronic diarrhea, Failure to thrive in infancy... OMIM:618805
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Retinal degeneration, Gait disturbance, Babinski sign, Difficulty walking, H... ORPHA:79244
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Hypogonadism, Dilated cardiomyopathy, Diabetes mell... ORPHA:79230
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Generalized dystonia, Vomiting, Diarrhea, Spastic tetraplegia, Myoclonus, Le... OMIM:618321
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Increased left ventricular end-diastolic vo... OMIM:615248
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Gastroesophageal reflux, Abnormal posturing, Atrial septal defec... OMIM:614857
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Permanent Congenital Hypothyroidism
Hypothyroidism, Macroglossia, Abdominal distention, Constipation, Tetraplegia, Umbilical hernia, ... ORPHA:226292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Inability to walk, Calf muscle hypertrophy, Facial palsy, Muscular dystrophy... OMIM:613155
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Coma, Failure to thrive, Renal insufficiency, Lethargy ORPHA:28
Alstrom Syndrome
Tubulointerstitial nephritis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased res... OMIM:203800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Spastic diplegia, Feeding difficulties in infancy... OMIM:300048
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Nausea and vomiting, Coma, Ataxia, Organic aciduria, Anorexia, Lethargy ORPHA:79242
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Enamel hypoplasia, Spasticity, Flexion contracture, Retinal t... OMIM:270200
N-Acetylglutamate Synthase Deficiency
Vomiting, Coma, Failure to thrive, Confusion, Lethargy OMIM:237310
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Vomiting, Diarrhea, Weight loss, Lethargy ORPHA:30925
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Spasticity, Vomiting, Hepatic failure, Concentric hypertrophic ca... OMIM:252010
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dysphagia, Dystonia OMIM:304700
Developmental And Epileptic Encephalopathy 28
Rigidity, Retinal degeneration, Spasticity, Optic atrophy OMIM:616211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Vomiting, Ventricular septal defect, Small for gestational age, Pericardial... ORPHA:26793
Glucose/Galactose Malabsorption
Malabsorption, Glycosuria, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chr... OMIM:606824
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Hydroureter, Intestinal malrotation, Megacystis, Portal hypertension... OMIM:619431
Abetalipoproteinemia
Retinopathy, Fat malabsorption, Retinal degeneration, Ataxia, Peripheral demyelination OMIM:200100
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Hypogonadism, Poor appetite, Ataxia, Failure to thrive, Alopecia of scalp, Tremor, Impa... OMIM:201100
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Temporal optic disc pallor, Abnormal retinal nerve fiber layer morph... ORPHA:1215
Meningococcal Meningitis
Hypotension, Drowsiness, Projectile vomiting, Shock, Anorexia, Reduced consciousness/confusion, L... ORPHA:33475
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Feeding difficulties in infancy, Camptodactyly, Renal cortical microcysts, Cleft p... OMIM:614866
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Hirsutism, Abdominal obesity, Rod-cone dystrophy, Retinal d... OMIM:209900
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Vomiting, Diarrhea, Perimembranous ventricular septal defect, Camptodactyly, Abdo... OMIM:608104
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Bifid uvula, Dilated ca... OMIM:615959
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Confusion, Lethargy OMIM:617900
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Decreased liver function, Renal dysplasia, Myoclonus, Tongue fasciculatio... OMIM:614922
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, High palate OMIM:614198
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Non-Functioning Paraganglioma
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... ORPHA:94080
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Dysdiadochokinesis, Apraxia, Gait disturbance, Dilated cardiomyopathy, Ataxia, Un... OMIM:616541
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Central Neurocytoma
Nausea and vomiting, Coma, Ataxia, Babinski sign, Lethargy ORPHA:73256
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Malabsorption, Coma, Dibasicaminoaciduria, Lethargy OMIM:238750
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Flexion contracture, Abnormal muscle glycogen content, Decreased liver function,... ORPHA:367
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Fatty replacement of skeletal muscle, Fasciculations, Parkinsonism, Bowel i... ORPHA:329478
Spinocerebellar Ataxia Type 13
Gait ataxia, Urinary incontinence, Optic atrophy, Titubation, Torticollis, Urinary urgency, Limb ... ORPHA:98768
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Gastroesophageal reflux, Hypothyroidism, Congenital nephrotic syndrome, Sm... OMIM:256300
Barth Syndrome
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Skeletal myopathy, Fair hair, Gait distu... OMIM:302060
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... OMIM:608161
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Confusion, Lethargy OMIM:613002
Mucopolysaccharidosis Type 3
Flexion contracture, Optic atrophy, Synophrys, Hirsutism, Hypertonia, Dysphagia, Coarse hair, Voc... ORPHA:581
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea,... ORPHA:652
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Ischemic stroke, Abnormal intestine morphology, Impaired T cell func... ORPHA:1830
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Decreased muscle mass, Weight loss, Elevated jugular venous pressure, Abdominal p... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, Increased variability in muscle fiber diameter, High palate, Cardiac arrest, L... OMIM:604377
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Feeding difficulties in infancy, Lethargy OMIM:610498
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Wolman Disease
Hepatic failure, Nausea and vomiting, Adrenal insufficiency, Cachexia, Steatorrhea, Abdominal dis... ORPHA:75233
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Williams Syndrome
Sudden cardiac death, Peptic ulcer, Hypothyroidism, Precocious puberty, Colonic diverticula, Abno... ORPHA:904
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Delirium, Cystathioninuria, Abnormality of ext... OMIM:277400
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Shuffling gait, Ventricular septal defect, Cardiogenic shock, ... ORPHA:276432
Thyroid Dyshormonogenesis 1
Hypothyroidism, Macroglossia, Constipation, Goiter, Lethargy, Umbilical hernia OMIM:274400
Sjögren-Larsson Syndrome
Spasticity, Retinopathy, Abnormal pyramidal sign, Spastic diplegia, Macular degeneration, Abnorma... ORPHA:816
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, High palate, Weight loss, Autophagic vacuoles, Fa... OMIM:164310
Gaba-Transaminase Deficiency
Feeding difficulties, Lethargy OMIM:613163
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98863
Pediatric Systemic Lupus Erythematosus
Alopecia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Pericardial effusion, Ne... ORPHA:93552
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Cockayne Syndrome
Inability to walk, Optic atrophy, Retinal atrophy, Reduced subcutaneous adipose tissue, Feeding d... ORPHA:191
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Snakebite Envenomation
Hypotension, Neuromuscular dysphagia, Vomiting, Rhabdomyolysis, Cerebral ischemia, Respiratory pa... ORPHA:449285
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Ventricular septal defect, Retinal degeneration, Oculomotor apraxia, Nephronopht... OMIM:615630
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Gait ataxia, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine acetoacetic ... OMIM:620089
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Generalized amyotrophy, Limb hypertonia, Optic atrophy, Spastic tetraplegia, ... OMIM:617710
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Cockayne Syndrome Type 3
Flexion contracture, Abnormality of peripheral nerve conduction, Premature graying of hair, Retin... ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 3
Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Optic atrophy, Poor... OMIM:610505
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Spasticity, Diarrhea, Weight loss, Ketonuria, Coma, Cardiac arrest, Myoclonus, Reye ... ORPHA:20
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Vomiting, Coma, Protein avoidance, Ataxia, Failure to thrive, Lethargy OMIM:237300
Kufor-Rakeb Syndrome
Blepharospasm, Upper motor neuron dysfunction, Babinski sign, Difficulty walking, Hypertonia, Dys... ORPHA:306674
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Flexion contracture, Decreased body weight, Esophageal stricture, Gastro... ORPHA:89842
Wolfram Syndrome 1
Hydronephrosis, Hypothyroidism, Diabetes insipidus, Optic atrophy, Neurogenic bladder, Hydrourete... OMIM:222300
Poliomyelitis
Hypotension, Inability to walk, Hypoplasia of the musculature, Dysphagia, Upper limb muscle weakn... ORPHA:2912
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarr... OMIM:270420
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Vomiting, Drowsiness, Hypertension, Failure to thrive,... ORPHA:2169
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Lethargy, Centrally nucleated skeletal muscle fibers... ORPHA:324581
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Abnormal pyramidal sign, Vomiting, Decreased liver function, Optic atrophy, Glycos... ORPHA:436271
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Decreased circulating antibody level, Renal artery aneurysm, Abdominal pain, Rayna... OMIM:615688
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Periodic hyperkalemic p... ORPHA:37553
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Susac Syndrome
Gait ataxia, Nausea and vomiting, Upper motor neuron dysfunction, Confusion, Lethargy ORPHA:838
Celiac Disease, Susceptibility To, 1
Alopecia, Enamel hypoplasia, Vomiting, Diarrhea, Weight loss, Thyroiditis, Abdominal pain, Type I... OMIM:212750
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Attrv30M Amyloidosis
Diarrhea, Weight loss, Abnormal autonomic nervous system physiology, Vitreous floaters, Abnormal ... ORPHA:85447
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Vomiting, Cerebral palsy, Ketonuria, Coma, Organic aciduria, Failure to thrive, Feeding... OMIM:210210
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Chronic constipation, Small pitu... ORPHA:398069
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Abdominal distention OMIM:174050
Citrullinemia Type Ii
Vomiting, Diarrhea, Delirium, Fluctuations in consciousness, Coma, Drowsiness, Hepatocellular car... ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Vomiting, Narrow palate, High palat... OMIM:608836
Biotinidase Deficiency
Alopecia, Vomiting, Diarrhea, Optic atrophy, Feeding difficulties in infancy, Ataxia, Organic aci... OMIM:253260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly, Lethargy OMIM:600649
Dihydropyrimidinase Deficiency
Extrapyramidal dyskinesia, Abnormal pyramidal sign, Feeding difficulties in infancy, Anal atresia... OMIM:222748
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Gastroesophageal reflux, Reduced left ventricular ejection fraction, Exerci... OMIM:201475
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Curly hair, Gait disturbance, Large for gestational age, Hypospadias, Decreased ... ORPHA:457485
Congenital Heart Defects, Multiple Types, 5