Not currently registered for phenotyping at IMPC

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

Gene Summary

mucolipin 1
2210015I05Rik,  TRPML1,  mucolipidin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer OMIM:617100
Gastric Cancer
Stomach cancer OMIM:613659
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Ataxia, Thenar muscle atrophy, Retinal degeneration, Tip-t... OMIM:604360
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Severe Canavan Disease
Inability to walk, Gastroesophageal reflux, Feeding difficulties, Poor suck, Decerebrate rigidity... ORPHA:314911
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity OMIM:614322
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypertonia, Feeding difficulties, Increased level of methylsuccinic acid in ur... ORPHA:26792
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Nemaline bodies, Bradykinesia, Flexion contracture, Feeding... ORPHA:171442
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Left ventricular noncompaction, Myoclonus, Babinski sign, Truncal at... OMIM:252011
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Feeding difficulties, Retinopathy, Gait disturbance, Lethargy ORPHA:26
Oliver-Mcfarlane Syndrome
Sparse hair, Decreased response to growth hormone stimulation test, Alopecia, Small for gestation... OMIM:275400
Myopathy, Distal, 1
High palate, Amyotrophy of ankle musculature, Tip-toe gait, Toe extensor amyotrophy, Rimmed vacuo... OMIM:160500
Nemaline Myopathy 3
Slender build, High palate, Nemaline bodies, Hypertonia, EMG: myopathic abnormalities, Rigidity, ... OMIM:161800
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Macular degeneration, Concentric hypertrophic cardiomyo... OMIM:204200
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Myoclonus, Babinski sign, Confusion, Paroxysmal lethargy, Hemiparesi... OMIM:606777
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Vomiting, Optic atrophy, Dilated cardiomyopathy, Spasticity, Hypertrophic card... OMIM:614299
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Feeding difficulties, Myoclonus, Difficulty walking, Spasticity, Dysto... OMIM:617829
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Inguinal hernia, Dysdiadochokinesis, Interosseus muscle atrophy, Fiber type grouping, ... OMIM:619903
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal upper limb amyotrophy, Distal lower limb muscle weakness, Macular degeneration, Distal low... OMIM:619764
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Difficulty walking, Paralysis, Skeletal muscle atrophy, Lethargy OMIM:613710
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Abnormal pyramidal sign, Optic atrophy, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Coma, Feeding difficulties, Abdominal pain, Anorexia, Optic atrophy, Choreoath... ORPHA:79312
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Macular degeneration, Flexion contracture, Myoclonus, Optic atrophy... OMIM:256730
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexi... OMIM:613662
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... OMIM:615993
Brain-Lung-Thyroid Syndrome
Abnormal cardiac septum morphology, Ataxia, Falls, Chorea, Ventricular septal defect, Hypoparathy... ORPHA:209905
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis,... OMIM:619350
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hypertonia, Uraciluria, Tetraplegia, Optic atrophy, Lethargy OMIM:274270
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Dysphagia,... OMIM:619565
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Babinski sign, Vomiting, Optic atrophy, Dysphagia, Dystonia, Lethargy OMIM:618226
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Feeding difficulties in infancy, Cardiomyopathy, Myopathy... OMIM:201470
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Ataxia, Retinal degeneration, Macular degeneration, Babins... OMIM:270700
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Retinal degeneration, Rod-cone dystrophy, Dilated ca... OMIM:615981
Developmental And Epileptic Encephalopathy 40
Feeding difficulties, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic ... OMIM:617065
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Confusion, Hemiparesis, Chorea, Choreoa... ORPHA:71277
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Camptodactyly of finger, Muscular d... ORPHA:272
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Retinal degeneration, Myoclonus OMIM:204500
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Failure to thrive, Lethargy, Anorexia ORPHA:79283
Failure to thrive, Retinal degeneration OMIM:238340
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Rod-cone dystrophy, Opisthotonus, Pigmentary retinopathy, Gait d... ORPHA:216866
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Inability to walk, Calf muscle hypertrophy, Scapular win... ORPHA:206559
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... OMIM:164500
Variegate Porphyria
Increased fecal protoporphyrin concentration, Constipation, Vomiting, Paralysis OMIM:176200
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Waddling... OMIM:612937
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Constipation, Bradykinesia, Feeding difficulties, Myoclonus, Babinski sign, Parkinsonism,... ORPHA:101150
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Urofacial Syndrome 2
Constipation, Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infecti... OMIM:615112
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Vomiting, Lethargy ORPHA:622
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Poor suck, Type 1 fibers relatively smaller than type 2 fibers, Frontalis ... OMIM:300580
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Gastroesophageal reflux, Aminoaciduria, Atrial septal defect, Retinal degeneration, Arrhy... OMIM:249270
Myopathy, Myosin Storage, Autosomal Recessive
High palate, Loss of ambulation, Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hy... OMIM:255160
Developmental And Epileptic Encephalopathy 41
Inability to walk, Feeding difficulties, Flexion contracture, Spasticity, Lethargy OMIM:617105
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Anorexia, Diarrhea, Paroxysmal atrial tachycardia, Retinal dystrophy, Ventr... ORPHA:49827
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, ... ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate, Abnormality of retinal pi... ORPHA:2515
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Optic atrophy, Spasticity, Unsteady gait, Primary gonadal insufficiency, Decrea... OMIM:603896
Failure to thrive, Abnormality of the urinary system, Primary adrenal insufficiency, Myopathy, Ab... ORPHA:977
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Coma, Tetraparesis, Optic atrophy, Choreoathetosis, Renal insufficiency, Nau... ORPHA:27
Oculorenocerebellar Syndrome
Retinal degeneration, Spastic diplegia, Nephropathy, Choreoathetosis, Glomerular sclerosis OMIM:257970
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Babinski sign, Abnormal pyramidal sign, Peripheral axonal neuropathy... ORPHA:320360
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Abdominal distention, Chorea, Optic atrophy, Difficulty wal... ORPHA:79097
Dopa-Responsive Dystonia
Arm dystonia, Leg dystonia, Inability to walk, Constipation, Poor coordination, Oculogyric crisis... ORPHA:255
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Fluctuations in consciousness, Hypertrichosis, Ataxia, Constipation, Diarrhea, Vomiting, Optic at... ORPHA:550
Failure to thrive, Ataxia, Retinal degeneration, Macroglossia, Feeding difficulties, Rod-cone dys... ORPHA:79320
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Rigidity, Retinal degeneration, Spasticity OMIM:616211
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Dysdiadochokinesis, Myoclonus OMIM:256731
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Inability to walk, Truncal titubation, Babinski sign, Vomiting, Chorea, Cogwheel rig... OMIM:607483
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Gastroesophageal reflux, Retinal degeneration, Feeding difficulties, L... ORPHA:442835
Mucolipidosis Iv
Retinal degeneration, Babinski sign, Optic atrophy, Achlorhydria, Spastic tetraplegia, Dystonia, ... OMIM:252650
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, Nonprogressive cerebellar ataxia, O... OMIM:610198
Spinocerebellar Ataxia, X-Linked 3
Gastroesophageal reflux, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Vomiting, ... OMIM:301790
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Coma, Tricuspid regurgitation, Tip-toe gait, Poor suck, Mitral regurgitation,... ORPHA:746
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Spasticity, Ataxia, Decreased response to growth hormone stimulation test, Retinal degeneration OMIM:225755
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Coma, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, ... ORPHA:289916
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Abdominal distention, Decreased nerve conduction velocity, Tip-toe gait, Decerebrate ... ORPHA:309256
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy, Unsteady gait, Cardiomyo... OMIM:520000
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... ORPHA:276580
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Retinal degeneration, Opisthotonus, Feeding difficulties in infancy, Hypertrophic car... OMIM:616896
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Small intestinal dysmotility, Diarrhea, Vomiting, Weight loss, Ga... ORPHA:298
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Multiple Carboxylase Deficiency
Ataxia, Coma, Feeding difficulties, Alopecia, Spastic paraparesis, Organic aciduria, Optic atroph... ORPHA:148
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Increased connectiv... OMIM:616827
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Decreased body weight, Gastroesophageal reflux, Dilated card... OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dystonia, Lethargy OMIM:618224
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Malabsorption, Abnormal gastric mucosa morphology, Abdominal di... ORPHA:1876
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Optic neuritis, Bradykinesia, Hand muscle weakness, Muscle fiber atrophy, Parkinsonism wi... ORPHA:254886
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy, Choreoathetosis, Spasticity, Spastic tetraplegia, Hypertroph... OMIM:300438
Citrullinemia Type I
Torticollis, Failure to thrive, Ataxia, Coma, Gastroesophageal reflux, Feeding difficulties, Hepa... ORPHA:247525
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Glycogen Storage Disease Due To Lamp-2 Deficiency
Gait disturbance, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Feeding difficulties, Hepatic failure, ... ORPHA:352
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Myopathy, Myofibrillar, 1
Constipation, Restrictive cardiomyopathy, EMG: myopathic abnormalities, Diarrhea, Third degree at... OMIM:601419
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Coma, Decreased nerve conduction velocity, Spastic p... OMIM:238970
Leigh Syndrome With Cardiomyopathy
Fluctuations in consciousness, Hypertrichosis, Ataxia, Chorea, Optic atrophy, Spasticity, Hyperto... ORPHA:70474
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Hsd10 Disease, Infantile Type
Loss of ambulation, Abnormal concentration of acylcarnitine in the urine, Retinal degeneration, H... ORPHA:391428
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Urinary retention, Dyspha... OMIM:155310
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Coma, Feeding difficulties, Delirium, Confusion, Dia... ORPHA:927
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Ataxia, Feeding difficulties, Hypertrophic cardiomyopathy, Dystonia, Le... OMIM:246900
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Poor suck... ORPHA:225147
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Waddling gait, Facial ... OMIM:602541
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Retinal pigment epithelial mottling, Weakness of facial musculature, Increased variabilit... OMIM:607459
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Myoclonus, Facial myokymia, Chorea, Difficulty walking, Dilated ... ORPHA:324588
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration ORPHA:85334
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Laryngeal... ORPHA:99
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Constipation, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Red... ORPHA:254892
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for gestational age,... ORPHA:324575
Familial Visceral Myopathy
Abdominal distention, Cleft palate, Camptodactyly of finger, Hydroureter, Aplasia/Hypoplasia of t... ORPHA:2604
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response to glucagon test,... ORPHA:276556
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Chorea, Hypertrophic cardiomyopathy, Lethargy OMIM:618683
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Morm Syndrome
Micropenis, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Retinal atrophy ORPHA:75858
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Abnormality of the kidney, Renal cyst, Hypogonadism, Ob... OMIM:615982
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Cyclic Vomiting Syndrome
Ataxia, Abdominal pain, Anorexia, Vomiting, Nausea, Gastrointestinal dysmotility, Cardiomyopathy,... OMIM:500007
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... OMIM:619365
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Multiple lipomas, Gait disturbance, Ragged-red muscle fibers, Dilated cardiomyopathy, Inc... ORPHA:1349
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Abdominal distention, Decreased nerve conduction velocity, Orthostatic hypotension du... ORPHA:309271
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Tube feeding, Clumsiness, Retinal degeneration, Poor fine m... ORPHA:79264
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Laing Early-Onset Distal Myopathy
High palate, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:59135
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hand muscle weakness, Triceps weakness, Flexion contr... ORPHA:99947
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Abdominal distention, Intestinal malrotation, Hydroureter, Multicystic kid... ORPHA:2241
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Coma, Tachycardia, Tremor, Drowsiness, Pancreati... ORPHA:276608
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Constipation, Polyuria, Vomiting, Feeding difficulties in infancy, Megacystis,... OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Nephrogenic diabetes insipidus, Constipation, Polyuria, Vomiting, Feeding diff... OMIM:125800
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Decerebr... ORPHA:309263
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Ataxia, Tricuspid regurgitation, Feeding difficulties, Mitral regurgitation, Left vent... OMIM:619167
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Facial myokymia, Chorea, Choreoathetosis, Dilated car... OMIM:606703
Maternally-Inherited Diabetes And Deafness
Malabsorption, Ataxia, Type II diabetes mellitus, Constipation, Macular dystrophy, Retinopathy, A... ORPHA:225
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Coma, Cachexia, Diarrhea, Arrhythmia, Vomiting, Distal arthrogr... ORPHA:42
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Feeding difficulties, Small for gestational age, Myoglobinuria, Arrhythmia, Pi... OMIM:609015
Porphyria Due To Ala Dehydratase Deficiency
Fluctuations in consciousness, Constipation, Abdominal distention, Abdominal pain, Delirium, Conf... ORPHA:100924
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hy... OMIM:607155
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Alopecia, Truncal ataxia, Head tremor, Difficulty walking, Type I diabetes mellitus,... ORPHA:412057
Myopathy, Congenital, With Fiber-Type Disproportion
High palate, Failure to thrive, Feeding difficulties, Type 1 fibers relatively smaller than type ... OMIM:255310
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Gastroesophageal reflux, Cons... ORPHA:732
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Gait imbalance, High palate, Loss of ambulation, Feeding difficulties, Weakness of facial muscula... ORPHA:329336
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Ataxia, Feeding difficultie... ORPHA:2394
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Choreoathetosis, Dystonia, Lethargy, Episodic ataxia OMIM:312170
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Early Myoclonic Encephalopathy
Feeding difficulties, Poor suck, Myoclonus, Dysphagia, Lethargy ORPHA:1935
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... ORPHA:263494
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Clumsiness, Feeding difficulties, Hepatic failure, Diarrhe... ORPHA:79239
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Hypoplasia of penis, Muscular ventricular septal defect, Diaphragmatic eve... ORPHA:66634
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis OMIM:608634
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Hypergonadotropic hypogonadism, Weakness of facial musculature, Diarrhea, Arrhyt... ORPHA:352447
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Loss of ambulation, Ataxia, Coma, Babinski sign, Gait disturbance, Optic disc ... OMIM:615838
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum ins... OMIM:618985
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Hepatic failure, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy,... ORPHA:255210
Pyruvate Dehydrogenase Deficiency
High palate, Ataxia, Cerebral palsy, Abnormal pyramidal sign, Multiple lipomas, Gait disturbance,... ORPHA:765
Childhood-Onset Nemaline Myopathy
High palate, Facial diplegia, Increased variability in muscle fiber diameter, Difficulty walking,... ORPHA:171439
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Acute Intermittent Porphyria
Constipation, Proximal muscle weakness in lower limbs, Diarrhea, Tremor, Urinary retention, Exces... ORPHA:79276
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Myoglobinuria, Confusion... ORPHA:71212
Adiposis Dolorosa
Obesity, Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Lethal Congenital Contracture Syndrome 2
Akinesia, Degenerative vitreoretinopathy, Ventricular septal defect, Dilated cardiomyopathy, Hydr... OMIM:607598
Carnitine Deficiency, Systemic Primary
Failure to thrive, Coma, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Myopathy, C... OMIM:212140
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Tremor, Spasticity, Dystonia, Abnorma... OMIM:234200
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology, Arrhythmia, Limb mus... OMIM:266500
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Rhabdomyolysis, Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Ankle flexio... OMIM:618120
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Macular atrophy, Pe... OMIM:145350
Nephronophthisis 15
Obesity, Retinal degeneration, Nephronophthisis, Hepatic failure OMIM:614845
Porphyria, Acute Hepatic
Paralysis, Vomiting, Respiratory paralysis OMIM:612740
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Peripheral axonal neuropathy, Distal a... OMIM:608895
Glycerol Kinase Deficiency
Adrenal insufficiency, Coma, Small for gestational age, Muscular dystrophy, Episodic vomiting, In... OMIM:307030
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody... ORPHA:90003
Hypertonia, Ataxia, Coma, Constipation, Abdominal pain, Epistaxis, Diarrhea, Arrhythmia, Tremor, ... ORPHA:99745
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... ORPHA:157798
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Macular degeneration, Resting tremor, Intention tremor, Abnormal autonomic nerv... ORPHA:247234
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper... ORPHA:97279
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Central Diabetes Insipidus
Failure to thrive, Anorexia, Diarrhea, Nocturia, Excessive daytime somnolence, Weight loss, Nause... ORPHA:178029
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Multiple renal cysts, Feeding diff... ORPHA:2924
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Diarrhea, Arrhythmia, Dilated cardiomyopathy, Nausea, Facial pals... OMIM:615084
Atresia Of Small Intestine
Failure to thrive, Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, ... ORPHA:1201
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Vici Syndrome
Failure to thrive, Ocular albinism, Decreased circulating IgG level, Cleft palate, Hypopigmentati... OMIM:242840
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Niemann-Pick Disease, Type A
Failure to thrive, Inability to walk, Constipation, Cherry red spot of the macula, Rigidity, Vomi... OMIM:257200
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Cardiomyopathy, Renal insufficiency, Lethargy ORPHA:254857
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dysphagia, Paralysis, Athetosis OMIM:300857
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Friedreich Ataxia
Gait imbalance, Inability to walk, Limb ataxia, Hand muscle atrophy, Babinski sign, Falls, Chorea... ORPHA:95
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dysphagia, Dystonia, ... OMIM:233910
Congenital Tufting Enteropathy
Failure to thrive, Malabsorption, Anal atresia, Elevated fecal osmolality, Abnormal large intesti... ORPHA:92050
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Gait ... ORPHA:157941
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Abdominal distention, Abnormality of the kidney, Hepatocellular carcinoma, Pro... ORPHA:369
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Congenital Hypothyroidism
Nephrolithiasis, Abnormality of the thyroid gland, Constipation, Abdominal distention, Macrogloss... ORPHA:442
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Hypertonia, Inability to walk, Blepharospasm, Oromandib... OMIM:128100
Torticollis, Ataxia, Blepharospasm, Retinal degeneration, Chorea, Cogwheel rigidity, Diabetes mel... OMIM:604290
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Intestinal polyp, Diar... ORPHA:263665
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Hyperauto... OMIM:617406
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Dysdi... ORPHA:96
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Macular degeneration, Intention tremor, An... ORPHA:284289
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Loss of ambulation, Flexion contracture, Tip-toe gait, Calf muscle hypert... OMIM:310200
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Babinski sign, Spasticity, Spastic tetraparesis, Weight loss, Skeletal muscle atrophy, Lo... ORPHA:3208
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Inability to walk, Macroglossia, Flexion contracture, Muscula... OMIM:613155
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonus, Ataxia, Vomiting, Lethargy OMIM:618225
Torticollis, Akinesia, Ataxia, Abnormality of retinal pigmentation, Retinal degeneration, Limb at... ORPHA:48818
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Feeding difficulties, Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:605711
Idiopathic Intracranial Hypertension
Papilledema, Vomiting, Nausea, Obesity, Lethargy ORPHA:238624
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Micropenis, Poor coordination, Macular atrophy, Polyuri... OMIM:615994
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Lipoatrophy, Myopathy ORPHA:154
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Short stature, Testicular seminoma, Hypogonadism, Cryptorchidism ORPHA:281090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... OMIM:258450
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Camptodactyly of finger, Retinal degeneration, Ataxia OMIM:214980
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Toe extensor amyotrophy, Retinal flecks, Optic atrophy, Tics, Spasticity, L... ORPHA:157850
Myopathy, Centronuclear, 5
High palate, Hip contracture, Facial palsy, Dilated cardiomyopathy OMIM:615959
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Subdural hemorrhage, Retinal degeneration, Delirium, Optic atrophy, Glossitis, Peripheral... ORPHA:79282
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Coma, Hemiplegia/hemiparesis, Hepatic failure, Sudden cardiac death, Arrh... ORPHA:156
Alternating Hemiplegia Of Childhood
Ataxia, Constipation, Diarrhea, Vomiting, Chorea, Tremor, Paroxysmal dyskinesia, Gastrointestinal... ORPHA:2131
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Constipation, Abdominal distention, Macroglossia, Congeni... ORPHA:226313
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Cong... OMIM:602390
Al Amyloidosis
Autonomic erectile dysfunction, Renal interstitial amyloid deposits, Proteinuria, Postural hypote... ORPHA:85443
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Constipation, Macroglossia, Feeding difficulties in infan... ORPHA:95717
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Ataxia, Dilated cardiomyopathy, Peripheral axonal neuropathy OMIM:619688
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Abdominal distention, Constipation, Macroglossia, Feeding difficulties, Hypothyroidism, Thyroid a... ORPHA:95713
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Atresia Of Urethra
Abdominal distention, Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, B... ORPHA:105
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Myofiber disarray, Cerebral hemorrhage, M... OMIM:619897
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... OMIM:618815
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Chylomicron Retention Disease
Failure to thrive, Abdominal distention, Steatorrhea, Retinopathy, EMG: myopathic abnormalities, ... ORPHA:71
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Cerebral vasculitis, Intracranial hemorrhage, Parkinsonism, Pseudopapilledem... ORPHA:140989
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Carvajal Syndrome
Dilated cardiomyopathy, Woolly hair, Congestive heart failure ORPHA:65282
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Chronic di... OMIM:619079
Isolated Complex I Deficiency
Failure to thrive, Ataxia, Optic neuropathy, Feeding difficulties, Vomiting, Optic disc pallor, A... ORPHA:2609
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Thyroid Hemiagenesis
Abdominal distention, Constipation, Macroglossia, Umbilical hernia, Thyroid agenesis ORPHA:95719
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Coma, Diarrhea, Glycosuria, Vomiting, Tachycardi... ORPHA:263455
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Hydroureter, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis OMIM:619362
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Oroticaciduria, Coma, Progressive cerebellar ataxia,... ORPHA:415
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... OMIM:615237
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy OMIM:618573
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Elevated pulmonary artery pressure, Ileal atresia, Renal cortical hyperecho... OMIM:619351
Propionic Acidemia
Failure to thrive, Hyperglycinuria, Coma, Constipation, Cerebellar hemorrhage, Limb hypertonia, V... OMIM:606054
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... OMIM:619445
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Rod-cone dystrophy, Rigidity, Sensory axonal neuropathy, Spasticity, Retinal atrophy OMIM:610127
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Broad eyebrow, Macular degeneration OMIM:612948
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Aminoaciduria, Anorexia, Renal insufficiency, Lacticaciduria, Hypertrophic... OMIM:619386
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Ataxia, Upper motor neuron dysfunction, Spastic paraparesis, Homocystinuria, H... ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Retinal degeneration, Orthostatic hypotension, Parkinsoni... ORPHA:2822
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Wolfram Syndrome
Dysuria, Ataxia, Malabsorption, Constipation, Gastric ulcer, Abnormal autonomic nervous system ph... ORPHA:3463
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Failure to thrive, Homocystinuria, Lethargy OMIM:236270
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... ORPHA:101076
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Ataxia, Concentric hypertrophic cardiomyopathy, Feeding difficulties in infancy... OMIM:610505
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Vomiting ORPHA:79159
Glycine Encephalopathy
Myoclonus, Hyperglycinuria, Lethargy OMIM:605899
Toxin-Mediated Infectious Botulism
Constipation, Cerebral palsy, Diaphragmatic paralysis, Paralysis, Dysphagia ORPHA:230800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Constipation, Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, ... OMIM:608643
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Constipation, Abdominal pain, Methylmalonic acidur... OMIM:248360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Facial hirsutism, Cleft palate, Anteriorly placed anus, Central diabetes insipidu... OMIM:604292
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Dilated cardiomyopathy, Chronic diarrhea, Failure to thrive in infancy, Reduced... OMIM:618805
Lead Poisoning
Renal tubular dysfunction, Abdominal cramps, Chronic kidney disease, Poor gross motor coordinatio... ORPHA:330015
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Ataxia, Retinal dystrophy, Head titubation, Retinal atrophy, Oculomotor apraxia ORPHA:370022
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Gastroesophageal reflux, Atrial septal defect, Inguinal hernia, Feeding diffic... OMIM:614857
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Horner Syndrome, Congenital
Paralysis OMIM:143000
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Flexion contracture, Pul... OMIM:253800
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Hypogonadism, Diabetes mell... ORPHA:79230
Holocarboxylase Synthetase Deficiency
Ataxia, Coma, Alopecia, Anorexia, Organic aciduria, Weight loss, Nausea and vomiting, Lethargy ORPHA:79242
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Hypertonia, Arm dystonia, Retinal degeneration, Babinski sign, Gait disturbance... ORPHA:79244
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Macular degeneration, Myoclonus, Abnormal pyramidal sign, Dysphagia, Involuntary movem... OMIM:619780
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Left ventricular hypertrophy, Myoclonus, Diarrhea, Episodic vomiting, Vomiting, Tachycard... OMIM:618321
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss, Lethargy, Diabetes insipidus ORPHA:30925
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Permanent Congenital Hypothyroidism
Constipation, Abdominal distention, Macroglossia, Feeding difficulties, Thyroid dysgenesis, Hypot... ORPHA:226292
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Spastic diplegia, Vomiting, Pyloric stenosis, Feedi... OMIM:300048
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Tetrapare... OMIM:619260
Ataxia, Retinal degeneration, Retinopathy, Fat malabsorption, Peripheral demyelination OMIM:200100
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Vomiting,... OMIM:143880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle ... OMIM:619566
Sjogren-Larsson Syndrome
Macular degeneration, Flexion contracture, Spastic paraparesis, Retinal thinning, Retinal pigment... OMIM:270200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Intestinal malrotation, Hydroureter, Hydronephrosis, Portal hypertension, Microc... OMIM:619431
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Coma, Renal insufficiency, Nausea and vomiting, Lethargy ORPHA:28
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Decreased serum testosterone concentration, Diarrhea, Impaired T cell ... OMIM:201100
Glucose/Galactose Malabsorption
Failure to thrive, Malabsorption, Abdominal distention, Glycosuria, Chronic diarrhea, Hyperactive... OMIM:606824
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Nephritis, Alopecia, Hyp... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Ataxia, Optic neuropathy, Coma, 3-hydroxydicarboxylic aciduria, Hepatic failur... OMIM:252010
Bardet-Biedl Syndrome 1
Gait imbalance, High palate, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, ... OMIM:209900
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Coma, Confusion, Vomiting, Lethargy OMIM:237310
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Temporal optic disc pallor, Limb-girdle muscle weakn... ORPHA:1215
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Hemiparesis, Lethargy OMIM:617900
Meningococcal Meningitis
Projectile vomiting, Anorexia, Papilledema, Hypotension, Shock, Drowsiness, Renal insufficiency, ... ORPHA:33475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Atrial septal defect, Feeding difficulties, Small for gestational age, Ta... ORPHA:26793
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Feeding difficulties, Myoclonus, Renal dysplasi... OMIM:614922
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Sparse hair, Inguinal hernia, Dysmetria, Unilateral renal agenesis, Mic... OMIM:616541
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Abnormality of extrapyramidal motor function, Methylmalonic aciduria, Delirium... OMIM:277400
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ataxia, Constipation, Retinal degeneration, Coarse hair, Hepara... ORPHA:581
Dilated cardiomyopathy OMIM:251220
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Gastroesophageal reflux, Renal tubular atrophy, Diffuse mesangial ... OMIM:256300
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Central Neurocytoma
Ataxia, Coma, Babinski sign, Nausea and vomiting, Lethargy ORPHA:73256
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Hemiparesis, Lethargy OMIM:613002
Barth Syndrome
Failure to thrive, Fair hair, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end... OMIM:302060
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone concentration, Decreased mus... ORPHA:465508
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Failure to thrive, Decreased liver function, Flexion contractur... ORPHA:367
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... ORPHA:98911
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Oculopharyngodistal Myopathy 1
High palate, Ataxia, Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Rimmed vacuoles, ... OMIM:164310
Ogden Syndrome
Torticollis, Hypertonia, High, narrow palate, Inguinal hernia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:276432
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Hyperlysinuria With Hyperammonemia
Malabsorption, Coma, Hyperlysinuria, Lethargy, Dibasicaminoaciduria OMIM:238750
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Melena, Constipation, ... ORPHA:652
Williams Syndrome
Gait imbalance, Abnormal cardiac septum morphology, Ataxia, Constipation, Tracheoesophageal fistu... ORPHA:904
Wolman Disease
Adrenal insufficiency, Abdominal distention, Steatorrhea, Adrenal calcification, Cachexia, Hepati... ORPHA:75233
Pediatric Systemic Lupus Erythematosus
Dark urine, Hemiplegia, Nephrotic syndrome, Abdominal distention, Nephritis, Abdominal pain, Alop... ORPHA:93552
Schimke Immuno-Osseous Dysplasia
Hemiplegia, Impaired T cell function, Proteinuria, Bone marrow hypocellularity, Transient ischemi... ORPHA:1830
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Ataxia, Inability to walk, Retinal degeneration, Abnormal re... ORPHA:191
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Sinu... ORPHA:94080
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Truncal obesity, ... OMIM:615986
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Combined Oxidative Phosphorylation Deficiency 2
Feeding difficulties in infancy, Lethargy, Small for gestational age OMIM:610498
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Thyroid Dyshormonogenesis 1
Constipation, Macroglossia, Hypothyroidism, Umbilical hernia, Goiter, Lethargy OMIM:274400
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Spastic diplegia, Abnorma... ORPHA:816
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal degeneration, Dry hair, Retinal dystrophy, Optic disc pallor, Diffic... ORPHA:90324
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Camptodact... OMIM:608104
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Failure to thrive, Ataxia, Decreased liver function, Aminoaciduria, Sk... ORPHA:436271
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Retinal degeneration, Nephronophthisis, Hepatic failure, Oculomotor aprax... OMIM:615630
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Ureteral duplication, Optic disc colo... OMIM:270420
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum, Inguinal hernia, Retinal detachment, Small bowel diverticula, Femoral herni... OMIM:223330
Magel2-Related Prader-Willi-Like Syndrome
Hypogonadism, Increased body weight, Abdominal obesity, Precocious puberty, Small pituitary gland... ORPHA:398069
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hemiplegia, Ataxia, Renal artery aneurysm, Feeding difficulties, Abdominal pain, Raynaud phenomen... OMIM:615688
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Kufor-Rakeb Syndrome
Babinski sign, Difficulty walking, Hypertonia, Oculogyric crisis, Abnormal pyramidal sign, Parkin... ORPHA:306674
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Ataxia, Coma, Vomiting, Protein avoidance, Lethargy OMIM:237300
Snakebite Envenomation
Neuromuscular dysphagia, Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, In... ORPHA:449285
Methylcobalamin Deficiency Type Cble
Failure to thrive, Feeding difficulties, Hemolytic-uremic syndrome, Vomiting, Glomerulopathy, Dro... ORPHA:2169
Susac Syndrome
Confusion, Gait ataxia, Nausea and vomiting, Upper motor neuron dysfunction, Lethargy ORPHA:838
Paraparesis, Inability to walk, Abnormal skeletal muscle morphology, Vomiting, Skeletal muscle at... ORPHA:2912
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Andersen-Tawil Syndrome
High palate, Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricula... ORPHA:37553
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Constipation, Flexion contract... ORPHA:89842
Wolfram Syndrome 1
Testicular atrophy, Ataxia, Hydroureter, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, T... OMIM:222300
Citrullinemia Type Ii
Fluctuations in consciousness, Coma, Delayed menarche, Hepatocellular carcinoma, Delirium, Confus... ORPHA:247585
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Ketonuria, Coma, Hyperglycinuria, Feeding difficulties, Alopecia, Opisthotonus... OMIM:210210
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Biotinidase Deficiency
Ataxia, Alopecia, Diarrhea, Vomiting, Organic aciduria, Feeding difficulties in infancy, Optic at... OMIM:253260
Dihydropyrimidinase Deficiency
Anal atresia, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Feeding difficulties in infancy... OMIM:222748
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Ketonuria, Coma, 3-Methylglutaric aciduria, Anorexia, Spastic hemiparesis, Myoclonus, Dia... ORPHA:20
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Fasciculations, Lethargy, Internally nucleated skelet... ORPHA:324581
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Feeding difficulties, Dysmetria, Rod-cone dystrophy, Limb hypertonia, Athetos... OMIM:617710
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Narrow palate, Long-chain dicarboxylic aciduria, Diarrhea, Ureteral duplication, Vom... OMIM:608836
Attrv30M Amyloidosis
Constipation, Abnormal autonomic nervous system physiology, Abnormal renal physiology, Diarrhea, ... ORPHA:85447
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Transcobalamin Ii Deficiency
Failure to thrive, Ataxia, Decreased circulating IgA level, Decreased circulating IgG level, Meth... OMIM:275350
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Decreased circulating IgA level, Abdominal distention, Abdominal pain,... OMIM:212750
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Precocious puberty, Poor fine motor coordination, Cleft palate, Short stature, Matur... ORPHA:96184
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Decreased circulating IgA level, Intestinal polyp, Hypospadias, Protuberant abdo... ORPHA:457485
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Abdominal distention OMIM:174050
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Constipation, Abnormal autonomic nervous system physiology, Orthostatic hypotension due t... OMIM:105210
Donohue Syndrome
Hypertrichosis, Precocious puberty, Hyperinsulinemia, Abdominal distention, Severe failure to thr... OMIM:246200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Medullary thyroid carcinoma, Constipation, Elevated circulat... ORPHA:653
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Abdominal pain, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increas... ORPHA:86812
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy, Cardiomegaly OMIM:600649
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Anterior Cutaneous Nerve Entrapment Syndrome
Decreased body weight, Abdominal distention, Recurrent infection of the gastrointestinal tract, I...