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Gene: Mcoln1 MGI:1890498

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mcoln1 mutations

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

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

The table below shows human diseases associated to Mcoln1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucolipidosis Iv
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 distention, Adipose tissue loss, Long peni... OMIM:246200
Meningococcal Meningitis
Shock, Papilledema, Renal insufficiency, Projectile vomiting, Anorexia, Hypotension, Lethargy ORPHA:33475
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Cardiac arrest, Anorexia, Spastic hemiparesis, Reye syndrome-like episodes, Di... ORPHA:20
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Maturity-onset diabetes of the young, Postnatal growth retardation, Cryptorchidism... ORPHA:96184
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy OMIM:613002
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... ORPHA:220386
Pediatric Systemic Lupus Erythematosus
Dark urine, Abnormality of the gastrointestinal tract, Myositis, Alopecia, Renal insufficiency, P... ORPHA:93552
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... ORPHA:653
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hyperte... OMIM:619064
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Feeding difficulties in infancy, Cystathioninuria, Hemolytic-ur... OMIM:277400
Wolfram Syndrome 2
Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Optic atrophy, Decreased circulating ant... OMIM:604928
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody lev... ORPHA:90003
Meckel Syndrome, Type 8
Pericardial effusion, Abdominal distention, Cleft palate, Polycystic kidney dysplasia, Hyperechog... OMIM:613885
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Prolonged QRS complex, Decreased response... ORPHA:273
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Gastroesophageal re... ORPHA:542306
Primary Effusion Lymphoma
Pericardial effusion, Abdominal distention, Abdominal pain ORPHA:48686
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia, Ketonuria, Cerebral palsy, Hyperglycinuria, Feeding difficulti... OMIM:210210
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Paralysis, R... ORPHA:36382
Foodborne Botulism
Cerebral palsy, Paralysis, Diarrhea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia ORPHA:228371
Qazi-Markouizos Syndrome
Chronic constipation, Torticollis, Abdominal distention, High, narrow palate ORPHA:3010
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... OMIM:618719
Familial Melanoma
Neoplasm of the pancreas, Abnormality of extrapyramidal motor function, Neoplasm of the stomach ORPHA:618
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Abnormality of the kidney, Obesity, Macular degeneration... OMIM:613464
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Protein avoidance, Vomiting, Lethargy, Failure to thrive OMIM:237300
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Feeding difficulties in infancy, Goiter, Pituitary h... ORPHA:90674
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol ... ORPHA:199299
Poretti-Boltshauser Syndrome
Retinal thinning, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy OMIM:615960
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Absent eyelashes, Abnormali... ORPHA:166035
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Di... ORPHA:427
Mannosidosis, Alpha B, Lysosomal
Inguinal hernia, Babinski sign, Low anterior hairline, Abnormal pyramidal sign, Limb ataxia, Gait... OMIM:248500
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Difficulty walking OMIM:619345
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Gm1-Gangliosidosis, Type I
Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath... OMIM:230500
Schimke Immunoosseous Dysplasia
Waddling gait, Renal insufficiency, Small for gestational age, Proteinuria, Transient ischemic at... OMIM:242900
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Diarrhea, Bloody diarrhea, Abnormal heart... ORPHA:391673
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Medulloblastoma
Nausea and vomiting, Ataxia, Cerebellar hemorrhage, Adenomatous colonic polyposis, Dysmetria, Abn... ORPHA:616
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Transcobalamin Ii Deficiency
Failure to thrive, Ataxia, Diarrhea, Methylmalonic aciduria, Decreased circulating total IgM, Vom... OMIM:275350
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Feeding difficulties in infancy, Opisthotonus, Vomiting, Elevated urinary 3-methylcrot... OMIM:210200
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Ataxia, Feeding difficulties in infancy, Hypertonia, V... OMIM:248600
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... ORPHA:100085
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Scarring alopecia of scalp, Fl... ORPHA:158684
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Retinal degeneration, Cortica... ORPHA:168491
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo... ORPHA:97362
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria, Poor suck OMIM:615026
Trichinellosis
Facial palsy, Increased circulating IgE level, Babinski sign, Central retinal artery occlusion, R... ORPHA:863
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Adrenal pheoch... ORPHA:276621
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Abdominal pain, Congestive heart failure, Chronic diarrhea, Dilated card... OMIM:615895
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Abdominal pain ORPHA:234
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration, Steatorrhea OMIM:615558
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Parkinsonism, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb... OMIM:609286
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... OMIM:264800
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
1P36 Deletion Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Renal cyst, Gastroesophageal reflux, Hypoth... ORPHA:1606
Gm1 Gangliosidosis
Tremor, Gastroesophageal reflux, Decerebrate rigidity, Cherry red spot of the macula, Generalized... ORPHA:354
Microcephalic Primordial Dwarfism, Montreal Type
Hypertonia, Cryptorchidism, Severe short stature, Congenital pyloric atresia ORPHA:2617
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Generalized amyotrophy, 2-ethylhydracylic aciduria OMIM:610006
Gitelman Syndrome
Prolonged QT interval, Ataxia, Polyuria, Abdominal pain, Renal magnesium wasting, Paralysis, Rhab... OMIM:263800
Scrub Typhus
Nausea and vomiting, Renal insufficiency, Abdominal pain, Tremor, Myocarditis, Hypotension, Lethargy ORPHA:83317
Infantile Refsum Disease
Failure to thrive, Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Spasticity, R... ORPHA:772
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Aminoaciduria, Vomiting, Li... OMIM:277900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph... ORPHA:35710
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Premature gra... OMIM:613989
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Retinal dysplasia... ORPHA:2556
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... OMIM:601214
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Feeding difficulties in infancy, Goiter, Ele... ORPHA:90673
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Failure to thrive, Broad-based gait, Ataxia, Decr... OMIM:256810
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Feeding difficulties, Hypertension, Lower limb hyperto... ORPHA:2169
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Facial-lingu... ORPHA:276244
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Pyloric stenosis OMIM:617219
Poliomyelitis
Skeletal muscle atrophy, Anorexia, Hypoplasia of the musculature, Paralysis, Inability to walk, P... ORPHA:2912
Joubert Syndrome 6
Ataxia, Stage 5 chronic kidney disease, Nephronophthisis, Chorioretinal coloboma, Oculomotor apra... OMIM:610688
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Gait disturbance, Flexion contracture, Small for gestational age, Protuberant abdomen OMIM:613330
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal ... ORPHA:453533
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Elbow contracture, Rigidity, Abdominal distention, Feeding difficulties, Gastroe... OMIM:620275
Senior-Loken Syndrome 9
Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Macular... OMIM:616629
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial... OMIM:251000
Acrocephalopolydactyly
Abnormal renal morphology, Protuberant abdomen ORPHA:221054
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Diarrhea, Amylo... OMIM:105210
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Hurler Syndrome
Aortic regurgitation, Inguinal hernia, Heparan sulfate excretion in urine, Flexion contracture, D... OMIM:607014
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy... OMIM:212112
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cer... ORPHA:99901
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Impaired myocardial cont... ORPHA:79102
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilat... ORPHA:401923
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Sudden card... OMIM:614921
Metachromatic Leukodystrophy
Incoordination, Ataxia, Bowel incontinence, Abnormal stomach morphology, Tremor, Abnormal gallbla... ORPHA:512
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Rhabdomyolysis, Ventricular tachy... OMIM:212138
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... ORPHA:99956
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal refl... ORPHA:779
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Incoordination, Small for gestational age, Dextrocardia, Cystathioninuria, Tracheoesop... OMIM:277380
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Urethral stricture, Abdominal distention, Urinary bladder inflammation, Cong... ORPHA:79403
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Adrenal pheoch... ORPHA:29072
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, ... ORPHA:261250
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Abdominal distention, Chronic diarrhea, Mitral valve prolapse, Hemipares... OMIM:620233
Biotinidase Deficiency
Alopecia, Ataxia, Optic neuropathy, Optic atrophy, Organic aciduria, Spastic paraparesis, Letharg... ORPHA:79241
Isovaleric Acidemia
Cerebellar hemorrhage, Hyperglycinuria, Vomiting, Bone marrow hypocellularity, Lethargy OMIM:243500
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:618348
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate, Short stature ORPHA:314575
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Encephalitis Lethargica
Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Upper limb muscle weakness, Incre... ORPHA:83600
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Periodic paralysis ORPHA:757
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Bowel incontinence, Fee... ORPHA:682
Trichothiodystrophy
Brittle hair, Multiple joint contractures, High, narrow palate, Abnormal pyramidal sign, Gait ata... ORPHA:33364
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Esophageal stenosis OMIM:615190
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Anorexia, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive, Lethargy OMIM:611590
Congenital Myopathy 15
Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysi... OMIM:620161
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Facial-lingu... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Facial-lingu... ORPHA:276241
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Protuberant abdomen, Umbilical hernia, Nephroblastoma... OMIM:618272
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormal pyramidal sign, Vocal cord paralysis, Clumsiness, Progressive c... ORPHA:98757
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Vomiting, Abdominal pain, Hypovolemia, Decreased liver... ORPHA:275761
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... ORPHA:44890
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Citrullinemia Type Ii
Tremor, Delayed menarche, Diarrhea, Enuresis, Vomiting, Hepatocellular carcinoma, Lethargy, Mania... ORPHA:247585
Achondrogenesis Type 1A
Abdominal distention, Umbilical hernia, Femoral hernia ORPHA:93299
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Hepatocellular carcinoma, Abdominal distention, Hypercalciu... ORPHA:2088
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... ORPHA:79139
Malignant Peritoneal Mesothelioma
Weight loss, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Renal cyst, Feeding difficulties, Ho... OMIM:250410
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Achondrogenesis, Type Ib
Abdominal distention, Inguinal hernia, Umbilical hernia OMIM:600972
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... ORPHA:180229
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Ataxia, Congestive heart failure, Babinski sign, Dysmetria, Feeding diff... ORPHA:94147
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss ORPHA:83469
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine... OMIM:215600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Muscular dystrophy, Retinal degeneration, Feeding difficulties OMIM:615249
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Dilated cardiomyopathy, Tetraplegia, Vomiti... OMIM:610768
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarr... ORPHA:90051
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Cardiomegaly, Diarrhea, Feeding difficulties, Renal tubular acidosis, Leth... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Spasticity, Failure to thrive, Generalized amyotrophy OMIM:619423
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Macular degeneration, Abnormality of macular pigmenta... ORPHA:1573
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Thyroid agenesis, Elevated circulating thy... OMIM:218700
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Williams-Beuren Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Voc... OMIM:194050
African Trypanosomiasis
Urinary incontinence, Tremor, Choreoathetosis, Vomiting, Nausea, Papilledema, Alopecia, Abnormal ... ORPHA:3385
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Spastic tetraparesis, Dystonia ORPHA:404451
Bohring-Opitz Syndrome
Retinal atrophy, Facial hypotonia, Cardiomegaly, Feeding difficulties in infancy, Inability to wa... ORPHA:97297
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia ... ORPHA:231226
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Dilated cardio... OMIM:231530
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Feeding difficulties in infancy, Tremor, Flexion contracture, Dysmetria, Renal c... OMIM:212065
Liver Failure, Infantile, Transient
Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie... OMIM:613070
Argininosuccinic Aciduria
Dry hair, Brittle hair, Ataxia, Feeding difficulties in infancy, Protein avoidance, Oroticaciduri... OMIM:207900
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Gonadoblastoma
Abdominal distention, Increased serum testosterone level, Hirsutism, Abdominal pain ORPHA:206484
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Lower limb spasticity, Akinesia, Optic neuropathy, Optic atrophy, Abnormal pyr... OMIM:618249
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Abdominal distention, Rectal prolap... ORPHA:508
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Cardiomyopathy, Vomiting, Lethargy OMIM:616483
Cockayne Syndrome A
Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Micropenis, Loss of facial adipos... OMIM:216400
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Ovarian Fibrothecoma
Abdominal pain, Abdominal distention, Abnormal circulating hormone concentration, Increased serum... ORPHA:314478
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Peritoneal Cystic Mesothelioma
Abdominal distention, Weight loss, Constipation, Abdominal pain ORPHA:168816
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Torticollis, Anorexia, Precocious puberty, Abdominal distention, Weight loss... ORPHA:370348
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Congestive heart failure, Mi... ORPHA:2326
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Protuberant abdomen OMIM:617102
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Abdominal distention, Cleft... OMIM:235255
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Anorexia, Paralysis, Tremo... ORPHA:297
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Ma... OMIM:227810
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Increased... ORPHA:319218
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketonuria, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Dystonia, Optic atrophy, Vocal cord paralysis, Gastroesophageal reflux, Incre... ORPHA:500144
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Angioid streaks of the fun... OMIM:239000
Glycogen Storage Disease Ia
Decreased muscle mass, Proteinuria, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulo... OMIM:232200
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Ataxia, Ragged-red muscle fibers, Primary adrenal insuffic... OMIM:530000
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Renal ins... ORPHA:160
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Nephrocalcinosis, Abnormal small in... ORPHA:2290
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Rhabdomyolysis, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypoten... ORPHA:159
Inhalational Botulism
Diarrhea, Xerostomia, Paralysis, Constipation ORPHA:254504
Multiple Sulfatase Deficiency
Ataxia, Mucopolysacchariduria, Spasticity, Peripheral demyelination, Retinal degeneration OMIM:272200
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Abnormal heart mo... ORPHA:79284
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Abdominal pain, Protein avoidance, Oroticaciduria, Vomiting, Episodic ataxia, Lethargy, F... OMIM:311250
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Ataxia, Hypogonadotropic hypogonadism, Postnatal gr... OMIM:616113
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Telangiectasia of the skin, Myocardial infarction, Hiatus hernia... ORPHA:3342
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Hypertonia, Gastroesophageal reflux, Esophagitis ORPHA:79350
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Vocal cord paralysis, Jaw claudication, Cra... ORPHA:221098
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Sialuria
Inguinal hernia, Synophrys, Low posterior hairline, Poor fine motor coordination, Macroglossia, H... OMIM:269921
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Beta-Thalassemia Major
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia ... ORPHA:231214
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Feeding difficulties in infancy, Tremor,... OMIM:251100
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Tracheoesophageal fistula, Anaplastic thyroid carcinoma, Dysphagia, Nodular... ORPHA:142
Say-Barber-Miller Syndrome
Knee flexion contracture, Macular degeneration, High palate, Decreased circulating IgG level, Hig... ORPHA:3132
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Chronic diarrhea, Pyloric stenosis, Gait ataxia OMIM:616355
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Difficulty walking, Pr... OMIM:264700
Xq21 Microdeletion Syndrome
Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Decreased response to grow... ORPHA:1435
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Ketonuria, Lethargy ORPHA:35706
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Atrophic gastritis, Female hypogonadism, Decreased circulating para... OMIM:240300
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheek... ORPHA:576
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Syncope, Nail dystrophy, Woolly hair OMIM:615821
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Difficulty wa... ORPHA:119
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Contract... ORPHA:96179
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Frequent falls, Babinski sign OMIM:616924
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Malabsorption, Transient ischemic attack, Supraventricular arrhythmia, A... ORPHA:3260
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ... ORPHA:1433
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... OMIM:620152
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Rift Valley Fever
Retinitis, Anorexia, Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, Macular edema, Mele... ORPHA:319251
Fg Syndrome 3
Chronic constipation, Pyloric stenosis, Cryptorchidism OMIM:300406
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Increased circulating gonadotropin lev... ORPHA:64739
Hereditary Fructose Intolerance
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Cons... ORPHA:469
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Difficulty walking, Protuberant abdomen, Secondar... OMIM:277440
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Hypertonia, Vomiting, Gastroesophageal reflux, Atrial s... OMIM:270400
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Abdominal distent... ORPHA:436252
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopa... OMIM:611126
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cholera
Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic ... ORPHA:173
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, Increa... OMIM:619472
Holocarboxylase Synthetase Deficiency
Alopecia, Feeding difficulties in infancy, Organic aciduria, Vomiting, Hypertonia, Elevated urina... OMIM:253270
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Retinal degeneration, Papilledema, Abnormal foveal morpholog... ORPHA:580
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Thyroid ... OMIM:617100
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Methylmalonic aciduria, Dystonia, Lethargy, Homocystinuria OMIM:277410
Cholesteryl Ester Storage Disease
Acute hepatic failure, Failure to thrive, Adrenal calcification, Portal hypertension, Diarrhea, E... OMIM:278000
Citrullinemia, Classic
Failure to thrive, Ataxia, Protein avoidance, Vomiting, Lethargy, Oroticaciduria OMIM:215700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Gastroesophageal reflux, ... ORPHA:79408
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a... OMIM:617666
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hyperactive renin-angi... OMIM:214700
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ataxia, Facial palsy, Vocal cord pa... OMIM:211530
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Chronic diarrhea, Hypercalci... OMIM:557000
Alport Syndrome
Mesangial hypercellularity, Macular degeneration, Vomiting, Nephritis, Tubulointerstitial fibrosi... ORPHA:63
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Ventricular septal defect, Abdominal distention, Abnormal renal morphology, High... ORPHA:1655
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Glomus jugular tumor, Adrenal ... OMIM:605373
Amyotrophic Lateral Sclerosis
Nausea and vomiting, Skeletal muscle atrophy, Paralysis, Xerostomia, Depression, Spasticity ORPHA:803
Colonic Atresia
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia ORPHA:1198
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Poor fine motor coordination, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystroph... ORPHA:436245
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Periodic paralysis OMIM:188580
Hydranencephaly
Optic nerve hypoplasia, Dilatation of the ventricular cavity, Chorioretinal atrophy, Spastic dipl... ORPHA:2177
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Mitral valve calcification, Spontaneous, recurrent epistaxis, Cach... ORPHA:2072
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Cleft soft pala... OMIM:614557
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Pseudohypoaldosteronism OMIM:145260
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Nausea and vomiting, Cerebral vasculitis, Paralysis, Depression, Abnormal autonomic nervous syste... ORPHA:83601
Thyroid Hypoplasia
Abdominal distention, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Arteriosclerosis, Severe Juvenile
Central fundal arteriolar microaneurysms, Myocardial infarction, Central retinal vessel vascular ... OMIM:208060
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Feeding difficulties in infancy, Synophrys, Gastroesophage... OMIM:607872
Hereditary Spherocytosis
Abdominal distention, Ataxia, Restrictive cardiomyopathy, Abdominal pain ORPHA:822
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Ab... ORPHA:186
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Atrophic gastritis, Small for gestational age, Villous atrophy, Dilate... OMIM:619573
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Glycogen Storage Disease Ib
Proteinuria, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosclerosis, Inflammation... OMIM:232220
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Hypopigmentation of hair, Mala... ORPHA:565
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Trisomy 18P
Short stature, Bilateral cryptorchidism, Pyloric stenosis, High, narrow palate, Intrauterine grow... ORPHA:1715
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration, Lethargy ORPHA:36238
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Inguinal hernia, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebro... OMIM:252500
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Anal stenosis, Urinary incontinence, Peri... OMIM:176450
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... ORPHA:470
Arboleda-Tham Syndrome
Secundum atrial septal defect, Gastroesophageal reflux, Atrial septal defect, Sparse medial eyebr... OMIM:616268
Von Hippel-Lindau Disease
Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocy... ORPHA:892
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Vomiting, Hyperglycinuria OMIM:201450
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Vom... OMIM:619991
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Farber Disease
Skeletal muscle atrophy, Paraparesis, Chronic diarrhea, Flexion contracture, Feeding difficulties... ORPHA:333
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in uri... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Feeding difficulties in infancy, Opt... OMIM:236670
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Evans Syndrome
Lethargy, Syncope, Epistaxis ORPHA:1959
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Abnormal renal corticomedullary ... OMIM:617397
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Difficulty walking, Pr... ORPHA:289157
Methylmalonic Aciduria, Cblb Type
Ketonuria, Feeding difficulties in infancy, Methylmalonic aciduria, Vomiting, Lethargy, Failure t... OMIM:251110
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic ... ORPHA:959
Ohdo Syndrome, Sbbys Variant
Hypospadias, Dilated cardiomyopathy, Cleft palate, Feeding difficulties, Hypothyroidism OMIM:603736
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Neu... ORPHA:100086
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Feeding difficulties OMIM:618232
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Ataxia, Facial palsy, Hemiparesis, Intrarenal abscess, Abnormality of the ad... ORPHA:68
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis, Dec... ORPHA:436159
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circula... OMIM:256040
Trichothiodystrophy 3, Photosensitive
Short stature, Bilateral cryptorchidism, Pyloric stenosis, Hypertonia, Intrauterine growth retard... OMIM:616395
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, Inflammation of the ... OMIM:618108
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Retinopathy, Retinal degeneration OMIM:252600
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, Abdominal distention, Congestive heart failure, 4-Hydroxyphenylpy... OMIM:617156
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Knobloch Syndrome
Retinal detachment, Dextrocardia, Abnormal hair morphology, Pyloric stenosis, Abnormal vitreous h... ORPHA:1571
Dyggve-Melchior-Clausen Disease
Frequent falls, Spastic tetraparesis, Inability to walk, Difficulty walking, Protuberant abdomen,... ORPHA:239
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... ORPHA:536545
Encephalocraniocutaneous Lipomatosis
Alopecia, Lipodystrophy, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemipares... ORPHA:2396
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Lethargy, Limb hypertonia OMIM:620306
Hardikar Syndrome
Vomiting, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, C... OMIM:301068
Ovarian Fibroma
Abdominal distention, Abdominal pain ORPHA:314473
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Protubera... OMIM:608022
Werner Syndrome
Diabetes mellitus, Alopecia of scalp, Hypogonadism, Retinal degeneration OMIM:277700
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Short stature, Pyloric stenosis OMIM:218350
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Low anterior hairline, Gait ataxia, Long eyelashes, Retina... OMIM:618479
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Ataxia, Sinus tachycardia, Rhabdomyolysis, Oliguria, ... ORPHA:466650
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Meckel Syndrome 14
Tricuspid regurgitation, Abdominal distention, Mitral regurgitation, Polycystic kidney dysplasia,... OMIM:619879
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Proximal ... ORPHA:2785
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia ORPHA:684
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Cleft palate, Inguinal hernia, Protuberant abdomen OMIM:184250
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Ventricular septal defect, Aganglio... OMIM:235730
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Gaucher Disease, Type Ii
Rigidity, Feeding difficulties, Hypertonia, Gastroesophageal reflux, Protuberant abdomen, Dysphag... OMIM:230900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Primary Hyperoxaluria
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... ORPHA:416
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Retinal detachment, Inguinal hernia, Congestive heart failure, Arter... OMIM:225400
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Spastic paraplegia, Obesity, Lower limb hypertonia, Tip-toe gait, Spastic ... OMIM:617296
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal hypoplasia, Morgagni diaphragmatic ... OMIM:613177
Griscelli Syndrome
Pyloric stenosis, Spasticity, Short stature, Ataxia ORPHA:381
Pineoblastoma
Papilledema, Retinoblastoma, Lethargy, Paralysis ORPHA:251909
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Voc... ORPHA:64744
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic vomiting, Lacticaciduria, Elevated ur... OMIM:615751
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri... OMIM:229600
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo... OMIM:615577
Mirizzi Syndrome
Dark urine, Abdominal colic, Tachycardia, Anorexia, Abdominal pain, Abdominal distention, Vomitin... ORPHA:521219
Zygomycosis
Fasciitis, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Abdominal pa... ORPHA:73263
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypothyroidism, Al... ORPHA:37042
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Thyroiditis, Diarrhea, Enterocolitis, Ulcerative colitis, Stage 5 chronic... ORPHA:79259
Sweet Syndrome
Myositis, Dilated cardiomyopathy, Inflammation of the large intestine, Panniculitis, Small vessel... ORPHA:3243
Cranioectodermal Dysplasia 1
Inguinal hernia, Slow-growing hair, Short nail, Retinal dystrophy, Bicuspid aortic valve, Renal m... OMIM:218330
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Renal cyst, Macular degeneration, High palate, Nephronophthisis, Bifid uvul... OMIM:266920
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Sparse eyebrow, Constipation, Fetal ... ORPHA:73246
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Colitis, Hypoplasia of the... ORPHA:84064
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Myopathy, Adren... OMIM:307030
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Cleft palate... ORPHA:485
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis, Panniculitis OMIM:608068
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Ataxia, Facial palsy, Atrial fibr... ORPHA:31826
Thyroid Ectopia
Abnormality of the thyroid gland, Abdominal distention, Macroglossia, Constipation, Ectopic thyro... ORPHA:95712
Unilateral Polymicrogyria
Involuntary movements, Epistaxis, Spastic tetraplegia, Abnormal heart morphology, Hemiparesis, Po... ORPHA:268943
Distal Renal Tubular Acidosis
Hyperphosphaturia, Poor appetite, Hypocitraturia, Paralysis, Diarrhea, Nephrolithiasis, Renal cys... ORPHA:18
Marburg Hemorrhagic Fever
Shock, Abnormality of the gastrointestinal tract, Renal insufficiency, Tachycardia, Pericarditis,... ORPHA:99826
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadi... ORPHA:91347
Tyrosinemia, Type I
Acute hepatic failure, Gastrointestinal hemorrhage, Failure to thrive, Renal insufficiency, Perio... OMIM:276700
Glioblastoma
Paralysis ORPHA:360
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Increased urinary glycerol OMIM:229700
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Tongue fasciculations, Dysphagia OMIM:619461
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis OMIM:612300
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Hyperthyroidism, Bidirectional ventricular ectopy, Perio... OMIM:170390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete... OMIM:129900
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Urinary incontinence, Cranial nerve compressio... ORPHA:268882
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Ataxia, Poor appetite, Inability to walk, Gastr... OMIM:617799
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Pyloric stenosis, Midgut malr... OMIM:263750
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea ORPHA:309031
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp... ORPHA:247806
Fibrochondrogenesis 1
Omphalocele, Cleft palate, Protuberant abdomen, Camptodactyly, Joint contracture of the hand, Pat... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Diamond-Blackfan Anemia
Renal agenesis, Hypospadias, Small for gestational age, Ventricular septal defect, Cleft soft pal... ORPHA:124
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Recurrent urinary tract infections, Abnormal cardiac ventricular function, Dysto... ORPHA:90349
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne... OMIM:208500
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hypothyroidism, Pericardial effusion, Vasculitis... OMIM:615846
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Bladder diverticulum, Umbilical hernia, Suprava... OMIM:219100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma OMIM:212550
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Trichiasis, Abdominal di... ORPHA:95455
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Occipital Horn Syndrome
Inguinal hernia, Recurrent urinary tract infections, Gastroparesis, Femoral hernia, Scarring, Hia... ORPHA:198
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Glomerular subepithelial immune-complex deposits, M... OMIM:616307
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Abdominal distention, Urethral atresia, Hydronephrosis, Anal atresia OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Muscular dystrophy, ... OMIM:253280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Johanson-Blizzard Syndrome
Fair hair, Anteriorly placed anus, Atrial septal defect, Micropenis, Hypothyroidism, Hypospadias,... OMIM:243800
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Increased circulating androgen concentration, Bladder diverticulum, Premature ... ORPHA:2976
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Schneckenbecken Dysplasia
Umbilical hernia, Cleft palate, Protuberant abdomen OMIM:269250
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:578
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Occipital Horn Syndrome
Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, Hydronephrosis, Bladder diverticulum, C... OMIM:304150
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Orthostatic hypotension, Hiatus hernia, Incisional hernia, Rectal prolapse, Ciga... ORPHA:287
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Feeding difficulties in infancy, Gait ... OMIM:135900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Decreased ... OMIM:614700
Lymphatic Malformation 7
Pericardial effusion, Abdominal distention, Atrial septal defect OMIM:617300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cleft palate, Heart murmur, Multiple bladder diverticula, Atrial septal defect ORPHA:2728
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Flexion contracture, Feeding difficulties, Small pituitary gland, Protuberant abdome... OMIM:619479
Ulnar-Mammary Syndrome
Short stature, Cryptorchidism, Pyloric stenosis, Ectopic anus, Breast aplasia, Hypoplastic nipple... ORPHA:3138
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Ataxia, Aciduria, Paralysis, 3-Methylglutaconic aciduria, Vomiting, Ethylm... OMIM:203700
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Peripheral retinal avascularization, Ventricular septal defect, Interphalangeal join... ORPHA:96334
Lethal Kniest-Like Dysplasia
Atrial septal defect, Cleft palate, Protuberant abdomen ORPHA:2347
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Myocardial infarction, Pulm... ORPHA:447
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome ORPHA:2575
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Narrow palate, Mi... OMIM:608328
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Dilat... ORPHA:90348
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Alopecia, Myositis, Pericarditis, Gastritis, Myocarditis, Xerostomia... ORPHA:809
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Atelosteogenesis Type Ii
Bilateral cleft palate, Elbow flexion contracture, Cleft palate, Protuberant abdomen, Camptodactyly ORPHA:56304
Achondrogenesis, Type Ii
Cleft palate, Protuberant abdomen OMIM:200610
Chronic Granulomatous Disease
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption ORPHA:379
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Vocal co... OMIM:619488
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum, Atrophic scars OMIM:617821
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Opsismodysplasia
Renal phosphate wasting, Protuberant abdomen OMIM:258480
Neu-Laxova Syndrome 2
Cleft palate, High palate, Protuberant abdomen OMIM:616038
Kasabach-Merritt Syndrome
Abdominal distention, Hepatic hemangioma, Hypertrichosis, Abdominal pain ORPHA:2330
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased ci... ORPHA:3261
Achondrogenesis, Type Ia
Protuberant abdomen, Protruding tongue OMIM:200600
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Esophageal atresi... ORPHA:93271
Schinzel-Giedion Syndrome
Vocal cord paralysis, Renal cyst, Anteriorly placed anus, Hypertonia, High palate, Hepatoblastoma... ORPHA:798
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine ... ORPHA:93111
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Distal renal tubular acidosis, Optic nerve compression OMIM:259730
Atelosteogenesis, Type I
Cleft palate, Protuberant abdomen OMIM:108720
Greenberg Dysplasia
Pancreatic islet-cell hyperplasia, Bone marrow hypocellularity, Protuberant abdomen OMIM:215140
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... OMIM:619381
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Vocal cord paralysis, Tracheoesoph... OMIM:164280
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Gastrointestinal infarctions, Internal hemorrhage, Alopecia, Hypospadias, Ab... ORPHA:286
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Glycine Encephalopathy
Lethargy, Poor suck ORPHA:407
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi... ORPHA:227982
Cardiac-Urogenital Syndrome
Tachycardia, Penoscrotal hypospadias, Cor triatrium sinister, Ventricular septal defect, Congenit... OMIM:618280
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Camptodactyly, Protuberant abdomen, Knee flexion contracture OMIM:618019
Pyknoachondrogenesis
Abdominal distention, Muscular edema ORPHA:3003
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen, Protruding tongue ORPHA:50945
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Knobloch Syndrome 2
Chronic constipation, Pyloric stenosis OMIM:618458
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... OMIM:301074
Ulnar-Mammary Syndrome
Anal stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric stenosis, Hypo... OMIM:181450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mcoln1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mcoln1.

No publications found that use IMPC mice or data for Mcoln1.

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MGI Allele Allele Type Produced
Mcoln1em1(IMPC)Ccpcz Inter-exon deletion Mice

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