banner
Genes Phenotypes Help, News, Blog

Gene: Mcoln1 MGI:1890498

Log in to follow
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
Achlorhydria, Babinski sign, Optic atrophy, Spastic tetraplegia, Hypergastrinemia, Dystonia, Reti... OMIM:252650
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature... 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, Skeletal muscle atrophy, Lower limb spast... OMIM:604360
Severe Canavan Disease
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Inability to walk, Babinski sign,... ORPHA:314911
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Adult-Onset Nemaline Myopathy
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Paraproteinemia, Fe... ORPHA:171442
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Optic atrophy, Feeding difficulties, Myopathy, Cardiomyopathy, Hypertonia, Ethylmalonic... ORPHA:26792
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Retinal de... OMIM:614322
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Di... OMIM:252011
Methylmalonic Acidemia With Homocystinuria
Feeding difficulties, Gait disturbance, Lethargy, Failure to thrive, Retinopathy ORPHA:26
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Abnorm... OMIM:204200
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Long eye... OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Flexion contracture, Optic atrophy, Depression, Macular degeneration, Myoclonus, Spastici... OMIM:256730
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Facial palsy, Frequent falls, Feeding difficulties in infancy, Rigidity, Dilated c... OMIM:161800
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture, D... OMIM:613710
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Vomit... OMIM:618228
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Lower limb spasticity, Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythm... ORPHA:320360
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Feeding difficulties, Myoclonus, Difficulty walking, Dystonia, Letharg... OMIM:617829
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... OMIM:606777
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes... ORPHA:3363
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Premature graying of h... OMIM:619903
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Macular degeneration, Distal upper limb amyotrophy, Distal lower li... OMIM:619764
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Protein avoidance, Decreased nerve conduction velocity, Poor coordination, Chorioretinal ... OMIM:238970
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Chore... ORPHA:209905
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Malabsorption, Abdominal distent... OMIM:613662
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... OMIM:619350
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Feeding difficulties, Choreoathetosis, Myoclonus... OMIM:617065
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Tetraplegia, Uraciluria, Hypertonia, Lethargy, Failure to thrive OMIM:274270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Renal insufficiency, Anorexia, Abdominal pain, Optic atrophy, Feeding diffic... ORPHA:79312
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Urinary incontinence, Bowel incontin... OMIM:270700
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Re... OMIM:256731
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... OMIM:615981
Variegate Porphyria
Constipation, Increased fecal protoporphyrin concentration, Vomiting, Paralysis OMIM:176200
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... ORPHA:272
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Hypospadias, Sudden cardiac death, C... OMIM:610198
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Retinal degeneration OMIM:204500
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus... ORPHA:216866
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper... ORPHA:34515
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... ORPHA:206559
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Feeding difficulties, Abnormality of extrapyramidal motor functi... OMIM:618224
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogon... OMIM:615993
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Inability to walk, Congestive heart failure, Elbow flexion contractur... ORPHA:206546
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, I... OMIM:612937
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance, Anorexia ORPHA:79283
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Megacystis, Spast... OMIM:615112
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Isolated Atp Synthase Deficiency
Ataxia, Spastic paraplegia, Optic atrophy, Renal hypoplasia, Tetraplegia, Dilated cardiomyopathy,... ORPHA:254913
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Vomiting, Ataxia ORPHA:622
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98853
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Ventricular septal defect, Situs inversus tot... OMIM:249270
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Tetralogy of Fallot, Dysmetria, Feeding difficulties, Aminoaci... OMIM:250620
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Abdominal distention, Chorea, Optic atrophy, Hype... ORPHA:79097
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Unsteady gait, Optic atrophy, Primary gonadal insufficiency, ... OMIM:603896
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventricular septal defect, High, nar... ORPHA:2515
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Ataxia, Babinski sign, Optic atrophy, Vomiting, Dysphagia, Lethargy, Failure to thrive,... OMIM:618226
Alg6-Cdg
Ataxia, Puberty and gonadal disorders, Rod-cone dystrophy, Feeding difficulties, Increased circul... ORPHA:79320
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... ORPHA:550
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Adrenomyodystrophy
Megacystis, Primary adrenal insufficiency, Myopathy, Abnormality of the urinary system, Abnormal ... ORPHA:977
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Adiposis Dolorosa
Painful subcutaneous lipomas, Abdominal distention, Obesity, Depression, Constipation OMIM:103200
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand muscle weakness, Ragged... ORPHA:254886
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Retinal degener... OMIM:520000
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Retinal dystrophy, Anorexia, Cardiac arrest, Conges... ORPHA:49827
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Mucolipidosis Iv
Achlorhydria, Babinski sign, Optic atrophy, Spastic tetraplegia, Hypergastrinemia, Dystonia, Reti... OMIM:252650
Familial Dyskinesia And Facial Myokymia
Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Di... ORPHA:324588
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Ca... ORPHA:27
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Dysmetria, Gait... OMIM:607459
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Gastroesop... ORPHA:254892
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Feeding difficulties in infancy, Opisthotonus, Hypertonia, Hypertrophic ... OMIM:616896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Renal tu... ORPHA:289916
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Myopathy, Myofibrillar, 1
Facial palsy, Diarrhea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Constipation, Bradyc... OMIM:601419
Hsd10 Mitochondrial Disease
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Hypertrophic cardiomyopathy, Spasticity, Ret... OMIM:300438
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine moto... ORPHA:79264
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... OMIM:605285
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... OMIM:607483
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy... OMIM:616827
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... ORPHA:1876
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Poor appetite, Gastrointestinal... ORPHA:298
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Gastroint... ORPHA:391428
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... ORPHA:746
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Ca... ORPHA:603
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Dystonia, Involuntary movements, Congestive heart failure, Chorea, Dilated cardio... OMIM:606703
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Vomiting, Myoclonus, ... OMIM:614299
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Increased adipose tissue, Congestive heart failure, Ragged-red muscle fibers, Slurred spe... ORPHA:1349
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy OMIM:618683
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abdominal diste... ORPHA:2604
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Feeding difficulties, Decreased liver function, Dystonia, Lethargy, Hypertrophic cardiomy... OMIM:246900
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Obesity, Renal cyst, Hypogonadism, Rod-cone dystrophy, Retinal degener... OMIM:615982
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Freq... OMIM:300718
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased b... OMIM:618097
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ketonuria, Ataxia, Tricuspid regurgitation, Left ventricular systolic dysfunct... OMIM:619167
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Classic Galactosemia
Speech apraxia, Decreased serum insulin-like growth factor 1, Incoordination, Ataxia, Postural tr... ORPHA:79239
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Abnormal EKG, Diabetes mellitus, Optic atrophy, Abnormal pyramidal sign, P... ORPHA:1177
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti... ORPHA:309271
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond... ORPHA:309256
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Omphalocele, Multicystic kidney dysplasia, Hydroureter, Abnormality of the g... ORPHA:2241
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Tre... OMIM:128100
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Cyclic Vomiting Syndrome
Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Letharg... OMIM:500007
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Failure to thrive,... OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Feeding difficulties in infancy, Nephrogenic diabetes insipidus, Megacystis, Constipati... OMIM:125800
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... ORPHA:401768
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria, Abnormal chorioretinal morphology, Mala... ORPHA:225
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Feed... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Arrhythmia, Hypertrophic ... OMIM:616198
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Porphyria, Acute Hepatic
Respiratory paralysis, Vomiting, Paralysis OMIM:612740
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,... ORPHA:225147
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Ataxia,... ORPHA:2394
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration OMIM:617173
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hand tremor, Head tremor, Hypothyroidism, Alopecia, Retinal atrophy, Distal amyotrophy, Gait dist... ORPHA:412057
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Abnormal pyramidal sign, Feeding d... ORPHA:329336
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Elbow contracture, Narrow palate, Feeding difficu... OMIM:611523
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopath... OMIM:607155
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Feeding difficulties, Ankle clonus, Gastroesophageal reflux,... ORPHA:247525
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy, 3-Methylglutaconic aciduria, G... OMIM:618120
Early Myoclonic Encephalopathy
Feeding difficulties, Myoclonus, Dysphagia, Lethargy, Poor suck ORPHA:1935
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Truncal obesity, Micropenis ORPHA:75858
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... ORPHA:732
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Childhood-Onset Nemaline Myopathy
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, High palate, Type 1... ORPHA:171439
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Lethargy, Hypertrophic cardiomyopath... OMIM:613561
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal pyramidal sign, Choreoa... ORPHA:765
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Feeding difficulties, Syncope, Type I d... ORPHA:276575
Dpm3-Cdg
Babinski sign, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... ORPHA:263494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Feeding difficulties... ORPHA:276580
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Celiac... OMIM:618985
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive, Di... ORPHA:178029
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerativ... OMIM:607598
Mitochondrial Dna-Associated Leigh Syndrome
Chorea, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Dilated cardiomyopathy, Rod-co... ORPHA:255210
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abdominal pain, Abdomi... ORPHA:100924
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... ORPHA:247234
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... OMIM:233910
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Choroidal neovascularization, Drusen, Decreased nerve conduction ve... OMIM:608895
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Hypoplasia of penis, Ataxia, Muscular ventricular s... ORPHA:66634
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Ataxia, C... ORPHA:42
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Urinary incontinence, Feeding difficulties in infancy, Tremor, Abnormal py... OMIM:234200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulat... OMIM:615838
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Idiopathic Intracranial Hypertension
Papilledema, Obesity, Depression, Vomiting, Lethargy, Nausea ORPHA:238624
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Feeding difficulties in infancy, Inability to walk, Rigidity, Athetosis,... OMIM:257200
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Dicarboxylic aciduria, Feeding difficulties in infa... ORPHA:71212
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akines... ORPHA:48818
Nephronophthisis 15
Retinal degeneration, Obesity, Nephronophthisis OMIM:614845
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Refsum Disease, Classic
Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physio... OMIM:266500
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dysphagia OMIM:300857
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy, Decreased circ... OMIM:618573
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Ragged-red muscle fibers, Dilated cardio... ORPHA:352447
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Feeding difficulties in infancy, Knee flexion contracture, Abnormal left... ORPHA:3208
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Steppage gait, Muscle fiber necro... OMIM:258450
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... ORPHA:157850
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, ... ORPHA:276608
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-on... ORPHA:324575
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone concentration, ... ORPHA:95717
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of ... OMIM:604290
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Left atrial enlargem... OMIM:619424
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Chorea, Dysmetria, Gait ataxia, U... ORPHA:95
Acute Intermittent Porphyria
Urinary incontinence, Tremor, Respiratory paralysis, Proximal muscle weakness in upper limbs, Abd... ORPHA:79276
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Babinski sign, O... ORPHA:309263
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Tumor Predisposition Syndrome 4
Stomach cancer OMIM:609265
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Abdominal distention, Hepatocellular carcinoma, Hypertrop... ORPHA:369
Developmental And Epileptic Encephalopathy 41
Inability to walk, Babinski sign, Flexion contracture, Feeding difficulties, Nephrocalcinosis, Te... OMIM:617105
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Chronic diarrhea, Dilated... OMIM:615084
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Feeding difficulties, Syncope, Palpitations, Diffuse panc... ORPHA:276556
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Abdominal pain, Tremor, Diarrhea,... ORPHA:99745
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Slurred speech, Limb ataxia, Dysmetria, Leg muscle stiffness, Progressive cerebellar ataxia, Prog... ORPHA:284289
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul... ORPHA:226313
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy, Lethargy, Cardiomyopathy ORPHA:254857
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Diarrhea, Myopathy, Cardiomyopathy... OMIM:212140
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... OMIM:617282
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, ... ORPHA:96
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Overweight, ... OMIM:617406
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... OMIM:310200
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Primary Angiitis Of The Central Nervous System
Nausea and vomiting, Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paraly... ORPHA:140989
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic aciduria, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure t... OMIM:236270
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... OMIM:614895
Al Amyloidosis
Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of the kidney, Nephroti... ORPHA:85443
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Paraplegia, Feeding difficulties, V... ORPHA:927
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy, Peripheral axonal neuropathy, Spastic paraplegia, Ataxia OMIM:619688
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Bowel ... ORPHA:329478
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyram... ORPHA:2131
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Dihydropyrimidinase Deficiency
Feeding difficulties in infancy, Abnormal pyramidal sign, Uraciluria, Extrapyramidal dyskinesia, ... OMIM:222748
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Feeding difficulties, Facia... OMIM:616287
Isolated Complex I Deficiency
Optic disc pallor, Diabetes mellitus, Ataxia, Optic neuropathy, Feeding difficulties, Proximal tu... ORPHA:2609
Hypercalcemia, Infantile, 1
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... OMIM:143880
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, ... OMIM:602390
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardi... OMIM:618815
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Lipoatrophy ORPHA:154
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... ORPHA:101097
Athyreosis
Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy... ORPHA:95713
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Dext... OMIM:615994
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Carvajal Syndrome
Woolly hair, Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Vomiting, Myoclonus, Lethargy, Spasticity OMIM:618225
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Abnormal pyramidal sign, Feeding difficulties, Myopathy, Cardiomyopa... OMIM:201470
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Lethargy, Retinal degeneration, Glomerulopathy, Ketonuria, Ataxia, Hemolytic-... ORPHA:79282
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Thyroid Hemiagenesis
Thyroid agenesis, Abdominal distention, Macroglossia, Constipation, Umbilical hernia ORPHA:95719
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties... OMIM:608643
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Megacystis, Pyelonephritis, Bidirectional shunt, Ele... OMIM:619351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Retinal detachment, Exaggerated startle response, Flexion contracture, O... OMIM:253800
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... ORPHA:97279
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter... OMIM:604292
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysur... ORPHA:3463
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia ORPHA:230800
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... ORPHA:79244
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Myopathy, Fat malabsorption, Vomiting, Steatorrhea, EMG: myopathi... ORPHA:71
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Homocystinuria, Feeding difficulties in infancy, Optic atrophy, He... ORPHA:395
Propionic Acidemia
Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in infancy, Cerebe... OMIM:606054
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Hyperglycinuria, Lactica... OMIM:605711
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... OMIM:619445
Vici Syndrome
Albinism, Abnormal thymus morphology, High palate, Atrial septal defect, Decreased circulating Ig... OMIM:242840
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopathy, ... ORPHA:399086
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials... OMIM:619260
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... ORPHA:95716
Nephronophthisis 14
Situs inversus totalis, Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
X-Linked Acrogigantism
Increased body mass index, Abnormal optic chiasm morphology, Decreased thyroid-stimulating hormon... ORPHA:300373
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Oculomotor apraxia ORPHA:370022
Glycine Encephalopathy 1
Lethargy, Hyperglycinuria, Myoclonus OMIM:605899
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop... ORPHA:101076
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Inabilit... ORPHA:2822
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Vomiting, Pulmonic stenosis ORPHA:79159
Lead Poisoning
Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased circulating ... ORPHA:330015
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Horner Syndrome, Congenital
Paralysis OMIM:143000
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Supraventric... ORPHA:90064
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Intestinal pseudo-obstruction, Involuntary movements, Abnormal pyramidal sign... OMIM:619780
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Anorexia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Lethargy, Hy... OMIM:619386
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Ataxia, Rigidity, Spasticity, Rod-cone dystrophy, Sensory axonal neuropathy OMIM:610127
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Dilated cardiomyopathy... OMIM:618805
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Diarrhea, Chorea, Dilated cardiomyopathy, Spastic tetr... OMIM:618321
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Methylmalonic aciduria, Feeding difficulties, Gastroesophageal reflux, Atrial se... OMIM:614857
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... OMIM:300048
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Inability to walk, Flexion contracture, Abnormal left ventricula... OMIM:613155
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Hypogona... ORPHA:79230
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Anal fissure, Esophageal strictu... ORPHA:89842
Celiac Disease, Susceptibility To, 1
Alopecia, Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, We... OMIM:212750
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Feeding difficulties in infancy, Tremor, Patent foramen ovale, Rhabdomy... OMIM:610505
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Spas... OMIM:270200
Mohr-Tranebjaerg Syndrome
Tremor, Intrinsic hand muscle atrophy, Dysphagia, Abnormal posturing, Dystonia, Spasticity OMIM:304700
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... OMIM:606824
Alstrom Syndrome
Cone/cone-rod dystrophy, Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased... OMIM:203800
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Retinal detachment, Small for gestational age, Hypospadias, Pate... OMIM:607143
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Vomiting, Lethargy, Diabetes insipidus ORPHA:30925
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Failure to thrive, Clonus, Protein avoidance, Oroticaciduria, Poor coordination, ... ORPHA:415
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Sinus tachycardia, Cerebral hemorrhage,... ORPHA:94080
Developmental And Epileptic Encephalopathy 28
Rigidity, Spasticity, Optic atrophy, Retinal degeneration OMIM:616211
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... OMIM:619431
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Impaired T cell function, Poor appetite, Tremor, Diarrhea, Alopecia of scalp, Hypogonadis... OMIM:201100
Abetalipoproteinemia
Ataxia, Fat malabsorption, Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Perimembranous ventricular septal defect, Vomiting, Decreased liv... OMIM:608104
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... OMIM:209900
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Central Neurocytoma
Nausea and vomiting, Ataxia, Babinski sign, Depression, Lethargy ORPHA:73256
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Small for gestational age, V... ORPHA:26793
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Limb-girdle muscle weakness, Spas... ORPHA:1215
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endo... OMIM:602541
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Hypospadias, ... OMIM:252010
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Unilateral renal agenesis, Ectopic ... OMIM:616541
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Rectal p... ORPHA:904
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Proteinuria, Large for gestational age, Tremor, Diarrhea, Hyperinsulinemia, Increase... ORPHA:263455
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Decreased muscle mass, Decreased serum testosterone concentration, Hypogonado... ORPHA:465508
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Renal tubular acidosis, Ar... ORPHA:156
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Feeding difficulties in infancy, Renal cyst, High palate, Atrial septal defect, Lethargy, Tricusp... OMIM:614866
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Limb ataxia, Gait ataxia, Ur... ORPHA:98768
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno... ORPHA:367
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr... ORPHA:1830
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Lethargy, Renal insufficiency, Failure to thrive ORPHA:28
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Co... ORPHA:581
Wolman Disease
Nausea and vomiting, Adrenal calcification, Cachexia, Abdominal distention, Malnutrition, Esophag... ORPHA:75233
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Barth Syndrome
Failure to thrive, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cong... OMIM:302060
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Diarrhea, Rhabdomyolysis, Neuromuscular... ORPHA:449285
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardio... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 2
Feeding difficulties in infancy, Lethargy, Small for gestational age OMIM:610498
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis OMIM:614198
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Myofiber disarray, Feeding difficulties, Myopathy, High palate, Limb dystonia, In... OMIM:604377
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98863
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, G... ORPHA:70595
Gaba-Transaminase Deficiency
Lethargy, Feeding difficulties OMIM:613163
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Ataxia, Anorexia, Weight loss, Organic aciduria, Lethargy ORPHA:79242
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone ... OMIM:615986
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Abnormal pyramidal sign, ... ORPHA:816
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Feeding difficulties in infancy, Congeni... ORPHA:191
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Feeding d... OMIM:617710
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Abdominal pain, Paralysis, Hepatocellular carcinoma, ... OMIM:176000
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretor... OMIM:270420
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Opto-chiasmatic atrophy, Op... OMIM:620089
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Chronic kidney disease, Obesity, Nephronophthisis, Oculomotor apraxia,... OMIM:615630
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Thyroid Dyshormonogenesis 1
Macroglossia, Constipation, Umbilical hernia, Hypothyroidism, Lethargy, Goiter OMIM:274400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Babinski sign, Limb... OMIM:619259
Benign Samaritan Congenital Myopathy
Lethargy, Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skelet... ORPHA:324581
Susac Syndrome
Nausea and vomiting, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction ORPHA:838
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Gastroesophage... ORPHA:90324
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... ORPHA:2388
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Mcleod Syndrome
Atrial fibrillation, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, Depression, Myopathy, Cardio... OMIM:300842
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Renal cyst OMIM:174050
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Chorioretinal hypopigmentation, Gastroeso... ORPHA:398069
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipidus, Tremor, Optic atr... OMIM:222300
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Attrv30M Amyloidosis
Vitreous floaters, Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, C... ORPHA:85447
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Lethargy, Hyperlysinuria, Malabsorption OMIM:238750
Ogden Syndrome
Inguinal hernia, Torticollis, Ventricular septal defect, High, narrow palate, Fine hair, Hyperton... ORPHA:276432
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Myopathy, Renal tubular ... OMIM:614922
Kufor-Rakeb Syndrome
Urinary incontinence, Abnormal pyramidal sign, Hypertonia, Lethargy, Eyelid apraxia, Parkinsonism... ORPHA:306674
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy OMIM:617900
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Ataxia, Portal hypertension, Abdominal pain, Raynaud phenomenon, Dilated c... OMIM:615688
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Hypospadias, Diastasis recti, Large for gestational age, Gait di... ORPHA:457485
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac... OMIM:201475
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle wea... ORPHA:86812
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distenti... ORPHA:51890
Biotinidase Deficiency
Alopecia, Ataxia, Feeding difficulties in infancy, Diarrhea, Optic atrophy, Organic aciduria, Vom... OMIM:253260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... OMIM:608836
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Lethargy OMIM:600649
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Prematur... ORPHA:398079
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Incr... ORPHA:43
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Vomiting OMIM:237310
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Abdominal