Gene Summary

Name:
laminin, alpha 4
Synonyms:
laminin [a]4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Lama4tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased basophil cell number Lama4tm1.1(KOMP)Vlcg HOM Early adult 4.48×10-06
abnormal coat/hair pigmentation Lama4tm1.1(KOMP)Vlcg HOM Early adult 1.45×10-07
increased heart weight Lama4tm1.1(KOMP)Vlcg HOM Early adult 4.86×10-06
increased circulating alkaline phosphatase level Lama4tm1.1(KOMP)Vlcg HOM Early adult 2.67×10-05
corneal opacity Lama4tm1.1(KOMP)Vlcg HOM   Early adult 2.01×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 33.33% (1 of 3)
Aorta  Wholemount images heterozygote 33.33% (1 of 3)
Brain  Wholemount images heterozygote 66.67% (2 of 3)
Brown adipose tissue  Wholemount images  Section images heterozygote 100% (3 of 3)
Cecum  Wholemount images  Section images heterozygote 100% (3 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Chest bone  Wholemount images heterozygote 66.67% (2 of 3)
Colon  Wholemount images  Section images heterozygote 100% (3 of 3)
Diaphragm  Wholemount images  Section images heterozygote 100% (3 of 3)
Duodenum  Wholemount images  Section images heterozygote 100% (3 of 3)
Esophagus  Wholemount images  Section images heterozygote 100% (3 of 3)
Eye  Section images heterozygote 33.33% (1 of 3)
Gonadal fat pad  Section images heterozygote 33.33% (1 of 3)
Harderian gland  Section images heterozygote 33.33% (1 of 3)
Ileum  Wholemount images  Section images heterozygote 100% (3 of 3)
Jejunum  Wholemount images heterozygote 66.67% (2 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Lung  Wholemount images  Section images heterozygote 100% (3 of 3)
Mammary gland  Section images heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 100% (3 of 3)
Mesenteric lymph node  Wholemount images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Section images heterozygote 66.67% (2 of 3)
Ovary  Section images heterozygote 33.33% (1 of 3)
Oviduct  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Parotid gland  Section images heterozygote 33.33% (1 of 3)
Penis  Wholemount images heterozygote 33.33% (1 of 3)
Pituitary gland  Wholemount images heterozygote 33.33% (1 of 3)
Prostate gland  Wholemount images heterozygote 33.33% (1 of 3)
Quadriceps  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Sciatic nerve  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Skin  Wholemount images  Section images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Spleen  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Stomach  Wholemount images  Section images heterozygote 100% (3 of 3)
Sublingual gland  Section images heterozygote 33.33% (1 of 3)
Submandibular gland  Section images heterozygote 33.33% (1 of 3)
Thyroid gland  Wholemount images  Section images heterozygote 100% (3 of 3)
Tongue  Wholemount images  Section images heterozygote 100% (3 of 3)
Trachea  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Trigeminal V nerve  Section images heterozygote 33.33% (1 of 3)
Urinary bladder  Wholemount images  Section images heterozygote 100% (3 of 3)
Uterus  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Vas deferens  Wholemount images heterozygote 33.33% (1 of 3)
Vesicular gland  Wholemount images heterozygote 33.33% (1 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Epididymis N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

78 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

44 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Lama4 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 Lama4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154

The table below shows human diseases predicted to be associated to Lama4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Pallor, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:90039
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:63273
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticu... OMIM:615631
Cyanosis, Transient Neonatal
Cyanosis, Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Progressive spastic paraplegia, Leg muscle stiffness, Abnormal pyramidal sign, Lower limb spastic... ORPHA:320360
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Ataxia, Jaundice, Hemolytic anemia, Reticulocytosis ORPHA:33574
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal hear... ORPHA:1067
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Impaired distal tactile sensatio... ORPHA:90064
Hereditary Spherocytosis
Cholelithiasis, Pallor, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ataxia... ORPHA:822
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Spastic dysarthria, Spastic diplegia, Ataxia, Unsteady gait, Leukod... ORPHA:401866
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Steppage gait, Impaired distal vibration... OMIM:610100
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Flexion contracture, Gliosis, Abnormal autonomic nervous system physiology, Rig... OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased circulating lactate... ORPHA:3202
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Dystonia, Hypertonia OMIM:614654
Anemia, Congenital Dyserythropoietic, Type Ia
Reduced level of N-acetylglucosaminyltransferase II, Poikilocytosis, Splenomegaly, Anisocytosis, ... OMIM:224120
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Pallor, Abnormal bleeding, Weight loss ORPHA:517
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Coma, Confusion, Myocardial infarction, Abnormal lactate dehydrogenase level, Reticul... ORPHA:54057
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Spasticity, Dystonia, Ataxia OMIM:614458
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Anemia, Congenital Dyserythropoietic, Type Iv
Increased circulating lactate dehydrogenase concentration, Anisocytosis, Anemia, Increased RBC di... OMIM:613673
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Increased circulating lactate dehydrogena... ORPHA:232
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Evans Syndrome
Bruising susceptibility, Petechiae, Pallor, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:1959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Hemolytic anemia, Prolonged bleeding time, Reti... OMIM:314050
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy, Slurred speech OMIM:618855
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Wolff-Parkinson-White syndrome, Ataxia, Unsteady gait, V... OMIM:614947
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Cardiomyopathy, Facial palsy, Scapular winging, Waddling gait OMIM:617336
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... OMIM:224100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Lethargy, Failure to thrive, Hemolytic anemia, Reticulocytosis, Decre... OMIM:611590
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Megaloblastic anemia, Lethargy, Paresthesia, Pallor, Th... ORPHA:49827
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
X-Linked Intellectual Disability, Hedera Type
Action tremor, Frequent falls, Dysmetria, Left ventricular hypertrophy, Apraxia, Extrapyramidal m... ORPHA:93952
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hy... OMIM:619048
Isolated Succinate-Coq Reductase Deficiency
Spastic tetraparesis, Frequent falls, Left ventricular hypertrophy, Skeletal myopathy, Abnormal l... ORPHA:3208
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Breath-Holding Spells
Pallor, Iron deficiency anemia, Loss of consciousness, Cyanosis OMIM:607578
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Gait disturbance, Failure to thrive, Lethargy ORPHA:79283
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Choreoathetosis, Confusion, Ataxia, Lethargy, Chorea, Abnormal erythrocyte morphology ORPHA:71277
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Pallor, Anisocytosis, Splenomegaly, Heinz bodie... OMIM:300908
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Dy... OMIM:619167
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Ataxia ORPHA:2802
Glut1 Deficiency Syndrome 2
Reticulocytosis, Ataxia, Choreoathetosis OMIM:612126
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Edinburgh Malformation Syndrome
Death in infancy, Failure to thrive, Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Congestive h... ORPHA:75564
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Cardiomyopathy, Myoclonus, Tremor OMIM:619647
Harderoporphyria
Cutaneous photosensitivity, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic an... OMIM:618892
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Ataxia, Jaundice, Hepatomegaly, Pallor, Thrombocytopenia OMIM:613839
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Pallor, Megaloblastic anemia, Abnormal hemo... ORPHA:35858
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Fabry Disease
Arrhythmia, Congestive heart failure, Fasciculations, Myocardial infarction, Abnormal autonomic n... OMIM:301500
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hy... OMIM:615234
Tangier Disease
Left ventricular hypertrophy, Peripheral demyelination, Impaired pain sensation, Splenomegaly, He... OMIM:205400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Splenomegaly, Coma, Hepatomegaly, Lethargy, Neutropenia, Anemia, Failure to thri... ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tra... ORPHA:79301
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Dystonia, Myoclonus, Tremor OMIM:619651
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... ORPHA:170
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Choreoathetosis, Coma, Ataxia, Pancreatitis, Lethargy, Hepatomegaly, Anemia, Cardiomy... ORPHA:27
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:616649
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:612653
Babesiosis
Hepatic failure, Leukopenia, Congestive heart failure, Coma, Confusion, Splenomegaly, Myocardial ... ORPHA:108
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Post-partum hemorrhage, Increased ... ORPHA:98870
Myopathy, X-Linked, With Postural Muscle Atrophy
Flexion contracture, Scapular winging, Arrhythmia, Hypertrophic cardiomyopathy, Rimmed vacuoles OMIM:300696
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:182900
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Rh Deficiency Syndrome
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Hepatosplenomegaly,... ORPHA:71275
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor OMIM:618632
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... ORPHA:444013
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Hepatomegaly ORPHA:2432
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Hypertrophic cardiomyopathy, Ataxia, Lethargy, Death in childhood, Chorea OMIM:618683
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Muscul... OMIM:613156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Arrhythmia, Ragged-red muscle fibers, Sensory ataxia, EMG: myopathic abnormalities,... OMIM:609286
Autosomal Recessive Progressive External Ophthalmoplegia
Action tremor, Shuffling gait, Muscle fiber atrophy, Ragged-red muscle fibers, Bradykinesia, Hand... ORPHA:254886
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concent... OMIM:194380
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Increased QRS ... OMIM:619040
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Partial atrioventricula... ORPHA:1330
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Poor fine motor coordination, Arrhythmia, Sick sinus syndrome OMIM:617182
Overhydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Decreased mean corpuscular hemoglobin ... ORPHA:3203
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Distal amyotrophy, Limb ataxia, Tremor OMIM:617018
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Hepatomegaly, Lethargy, Anemia, Failure to thrive ORPHA:28
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Lethargy, Decreased methionine synthase activity, Failure to thrive, Gait d... OMIM:236270
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenom... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Dystonia, Flexion contracture, Ragged-red... OMIM:252011
Developmental And Epileptic Encephalopathy 35
Delayed CNS myelination, Cardiomyopathy, Limb tremor OMIM:616647
Leukodystrophy, Hypomyelinating, 13
Flexion contracture, Ataxia, Leukodystrophy, Spasticity, Clonus, Delayed myelination, Optic atrop... OMIM:616881
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Pallor, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegal... ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Dystonia, Difficulty walking OMIM:618222
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Dystonia, Pulmonary arterial hypertension, Bradycardia, Delayed myelination... OMIM:616299
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Peripheral demyelination, Hypertension OMIM:616733
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly ORPHA:1980
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... OMIM:109270
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Ethanolaminosis
Cardiomegaly OMIM:227150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyp... OMIM:616860
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Demyelinating periphera... OMIM:612954
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Coma, Hepatomegaly, Lethargy, Neutropenia, Anemia, Chorea, Pancreatitis, Thrombo... ORPHA:289916
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Galactosemia
Hepatic failure, Ataxia, Jaundice, Lethargy, Hepatomegaly, Abnormal enzyme/coenzyme activity, Fai... ORPHA:352
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy,... ORPHA:335
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardio... ORPHA:98911
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration ORPHA:713
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract, Increased LDL cholesterol concentration OMIM:618808
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Myocardial infarction, Confusion, Jaundice, Transient ischemic attack, Prolonged ... OMIM:274150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Cardiomyopathy, Myopathy, Distal up... OMIM:614065
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Myopathy, Distal, 1
Dilated cardiomyopathy, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles... OMIM:160500
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor, Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness... ORPHA:276556
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Ele... ORPHA:507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Bradykines... OMIM:258450
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Lethargy ORPHA:622
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy, Spasticity, Hemiplegia, Gait disturban... OMIM:614561
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Wilson Disease
Bruising susceptibility, Hepatic steatosis, Weight loss, Cirrhosis, Splenomegaly, Hepatomegaly, J... ORPHA:905
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Cardiomyopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle OMIM:255100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor, Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness... ORPHA:276575
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Ataxia OMIM:300653
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Abnormal heart morphology, Spasticity, Clumsiness, Abnormality o... ORPHA:79262
Coproporphyria, Hereditary
Cutaneous photosensitivity, Splenomegaly, Confusion, Jaundice, Hepatomegaly, Hypertension, Tachyc... OMIM:121300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Intention tremor, Joint contracture of the 5th finger, Atrioventricular block, Acrocyan... OMIM:614407
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Ataxia, Sensory ataxia, Jaundice, Impaired neutrophi... OMIM:613470
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular septal defect, Brad... OMIM:601005
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Portal hypertension,... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Autosomal Dominant Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Cogwheel rigidity, Limb muscle weakness, Atrial fibrillation, Left vent... ORPHA:254892
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ataxia, Hepatomegaly, Leukodystrophy, Spasti... OMIM:614299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor, Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness... ORPHA:276580
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Hypertonia, Dystonia, Tremor OMIM:617248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Congenital muscular dystrophy, Abnormal left ventricular function, Muscular ... OMIM:613155
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age, Drowsiness, Loss of consciousness, ... ORPHA:324575
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal m... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Steppage gait, ... OMIM:609260
Mitochondrial Trifunctional Protein Deficiency
Frequent falls, Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower li... ORPHA:746
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Inability to walk, Spastic paraplegia, Spasticity, Distal low... ORPHA:431329
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Glut1 Deficiency Syndrome 1
Choreoathetosis, Confusion, Ataxia, Lethargy, Paroxysmal lethargy OMIM:606777
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Autonomic bladder dysfunction, Abnormal EKG, Hypertrophic c... ORPHA:330001
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Leukopenia, Leukocytosis, Neutrophilia... ORPHA:91547
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Failure to thri... OMIM:600462
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Lethargy, Anemia, Failure to thrive, Gait disturbance OMIM:615838
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Ataxia, Unsteady gait, Gait ataxia, Truncal ataxia, Dyses... OMIM:619259
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Skin ulcer, Cholelithiasis, Decreased liver function, Jaundice, Eryt... ORPHA:231222
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance ORPHA:34587
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Spastic tetraplegia, Biventricular hypertrophy, Athetosis, Cerebral palsy, ... OMIM:615474
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Hb Bart'S Hydrops Fetalis
Pallor, Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemo... ORPHA:163596
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Hepatomegaly, Myopathy, Cardiomyopathy, Increased muscle lipid content, Difficult... OMIM:610717
Cardiomyopathy, Familial Hypertrophic, 28
Myocardial late gadolinium enhancement, Reduced ejection fraction, Apical hypertrophic cardiomyop... OMIM:619402
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Increased variability in muscle fiber dia... ORPHA:171439
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, Thro... ORPHA:858
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Generalized amyotrophy, Lower limb spasticity, Limb... ORPHA:401820
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Congenital Bile Acid Synthesis Defect Type 2
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatic steatosis, Ch... ORPHA:79303
Galactosialidosis
Corneal opacity ORPHA:351
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Scapular winging, Abnormal heart valve morphology, Generalized amyo... ORPHA:169186
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Arrhythmia, Hypertrophic cardiomyopathy, Spasticity, Optic atrophy OMIM:614702
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Skelet... ORPHA:868
Attrv30M Amyloidosis
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiomyopathy, Atrioventricular block,... ORPHA:85447
Developmental And Epileptic Encephalopathy 92
Inability to walk, Difficulty walking, Ataxia, Lethargy OMIM:617829
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Decreased liver function, Hepatomegaly, Ataxia, Lethargy, Elevated h... OMIM:246900
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Cardiomyopathy, Optic atrophy, Hypertonia ORPHA:26792
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Gingival bleeding, H... ORPHA:99828
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent falls, Abnormality of the Achille... ORPHA:34515
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Paraplegia, Spasticity, Hemiparesis, Cardio... OMIM:105210
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Pancreatic islet-cell hyperplasia, Coma, Lethargy, Pallor, Tachycardia, Increased bod... ORPHA:276608
Pseudoxanthoma Elasticum
Optic disc drusen, Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Res... OMIM:264800
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Cutis laxa, Jaundice, Elevated hepatic... OMIM:301045
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Arrhythmia, Skeletal muscle atrophy, Hy... ORPHA:96
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Cardiomyopathy, Difficulty ... OMIM:609308
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Abetalipoproteinemia
Anemia, Hyperbilirubinemia, Impaired distal proprioception, Positive Romberg sign, Prolonged prot... ORPHA:14
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Hepatomegaly, Jaundice, Failure to thrive, Elevate... ORPHA:79333
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Lethargy OMIM:618224
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Abnormal enzyme/coenzyme activity, Intermittent jaundice... ORPHA:3111
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Iri... OMIM:601706
Olmsted Syndrome 1
Corneal opacity, Nail dysplasia, Nail dystrophy, Alopecia universalis, Opacification of the corne... OMIM:614594
Cardiac Diverticulum
Diastasis recti, Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral steno... ORPHA:1686
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Myocardial infarction, Hypertension, Pl... OMIM:133100
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Sarcosinemia
Tetraparesis, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Ataxia, Pulmonic stenosis, O... ORPHA:3129
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Leigh Syndrome With Leukodystrophy
Progressive spastic paraplegia, Dystonia, Hypertrophic cardiomyopathy, Progressive cerebellar ata... ORPHA:255241
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Cardiomyopathy OMIM:615119
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Resting tremor, Congestive heart failure, Facial myokymia, Limb... ORPHA:324588
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hepatic failure, Hypoplastic anemia, Macronodula... OMIM:557000
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Benign Paroxysmal Torticollis Of Infancy
Pallor, Drowsiness, Ataxia ORPHA:71518
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Morquio Syndrome C
Corneal opacity OMIM:252300
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Failure to thrive, Lethargy ORPHA:26
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness, Distal sensory impairment, Cardiomyopathy, Global systolic... OMIM:606842
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Congestive heart failure, Cholecystitis, Death in adolescence,... OMIM:615512
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Splenomegaly, Coma, Ataxia, Lethargy, He... ORPHA:99745
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Neonatal hyperb... ORPHA:79234
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Tremor OMIM:158580
Cirrhosis, Familial
Jaundice, Lethargy, Pulmonary arterial hypertension, Hypertension, Micronodular cirrhosis OMIM:215600
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Paroxysmal Extreme Pain Disorder
Bradycardia, Impaired pain sensation, Tachycardia OMIM:167400
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonar... ORPHA:464343
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Loss of ambulation, Concentric hypertrophic cardiomyopathy, Abnormality of extrapyr... OMIM:204200
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Hypertonia, Dystonia, Hepatosplenomegaly, Spastic tetraplegia, Portal hyper... OMIM:619487
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Obesity, Jaundice, Hepatitis OMIM:234350
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Tetanus
Opisthotonus, Autonomic bladder dysfunction, Spasticity of pharyngeal muscles, Tremor, Abnormal a... ORPHA:3299
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Difficulty walking, Spinal mu... OMIM:615048
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Weight loss, Jaundice ORPHA:79238
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Leukodystrophy, Truncal ataxia, Lim... OMIM:619051
Myopathy, Myosin Storage, Autosomal Dominant
Waddling gait, Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnorma... OMIM:608358
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, P... ORPHA:90037
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Letharg... OMIM:602390
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Menorrhagia, Anemia, Abnormal bleeding, Spontaneous hematomas, Epistaxis OMIM:616176
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Tremor, Frequent falls, Peripheral demyelination, Somatic sensory dysfunct... ORPHA:206594
Friedreich Ataxia
Hand muscle atrophy, Dysmetria, Dystonia, Impaired proprioception, Intention tremor, Optic atroph... ORPHA:95
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Sp... ORPHA:3226
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy, Arrhythmia OMIM:612999
Noonan Syndrome 8
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, ... OMIM:615355
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Purpura, Coma, Hypertension, Reticulocytosis, Microangiopathic hemolytic anemia, ... OMIM:235400
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hepatic transaminas... OMIM:214900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Foot dorsiflexor weakness, Ventricular fibrillation, Ventricular tachycardi... ORPHA:263297
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Failure to thrive, Elev... OMIM:617156
Galactosemia Iii
Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cerebellar hemorrhage, Coma, Hepatomegaly, Lethargy, Failure to thrive, Cardiomyopath... OMIM:251000
Malaria
Reduced consciousness/confusion, Anemia, Hyperbilirubinemia, Gait imbalance, Thrombocytopenia ORPHA:673
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Refsum Disease, Classic
Somatic sensory dysfunction, Arrhythmia, Congestive heart failure, Ataxia, Limb muscle weakness, ... OMIM:266500
Isovaleric Acidemia
Pancytopenia, Leukopenia, Cerebellar hemorrhage, Coma, Lethargy, Thrombocytopenia OMIM:243500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Spastic tetraplegia, Congestive heart failure OMIM:300886
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Chronic hepati... ORPHA:231226
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Peripheral demyelination, Dystonia, Spastic tetraplegia, Hypertrophic cardio... OMIM:618237
White Forelock With Malformations
Atrial septal defect, White forelock, Poliosis OMIM:277740
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Ja... OMIM:614876
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysart... ORPHA:251282
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Leukopenia, Leukocytosis, Cardiac arrest, Thrombocyto... ORPHA:20
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Morning myoclonic jerks ORPHA:2898
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal pyramidal sign, Skeletal muscle atrophy, Loss of ability to walk, Abnormal atrioventricu... ORPHA:329336
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest, Ataxia, Tremor OMIM:618951
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia ORPHA:79235
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Coma, Hepatomegaly, Lethargy, Neutropenia, Anemia, Failure t... OMIM:606054
Hurler Syndrome
Abnormal pyramidal sign, Abnormal heart valve morphology, Endocardial fibroelastosis, Spastic par... ORPHA:93473
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Right ventricular hypertrophy, Reduced ejection fraction... ORPHA:268
Combined Oxidative Phosphorylation Defect Type 39
Loss of ability to walk, Involuntary movements, Leg dystonia, Limb hypertonia, Lower limb spastic... ORPHA:565624
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Fasciculations, Increased variability in muscle fiber diameter, EMG: my... ORPHA:52430
Classic Galactosemia
Hepatic failure, Ataxia, Jaundice, Lethargy,