Gene Summary

Name:
presenilin associated, rhomboid-like
Synonyms:
PRO2207,  Psarl,  PSENIP2,  PSARL1,  D16Ertd607e

IMPC Data Collections

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

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
increased mean corpuscular volume Parltm1a(EUCOMM)Hmgu HET Early adult 1.88×10-05
increased startle reflex Parltm1a(EUCOMM)Hmgu HET Early adult 7.80×10-06
preweaning lethality, incomplete penetrance Parltm1a(EUCOMM)Hmgu HOM   Early adult 0.00
corneal opacity Parltm1a(EUCOMM)Hmgu HET   Early adult 1.76×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Parl 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Respi... OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Encephalopathy, Apnea, Myopathy, Decreased activity of mitochondrial... OMIM:618236
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Failure to thrive in in... ORPHA:90103
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Mcdonough Syndrome
Cryptorchidism, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Sc... ORPHA:2471
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Abnormal motor nerve condu... ORPHA:139536
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ... OMIM:620068
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Distal upper limb amyotrophy, S... ORPHA:101075
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Encephalopathy, Splenomegaly, Hepatomegaly... ORPHA:77260
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Cerebral atrophy, Decreased nerve... ORPHA:457205
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m... OMIM:618378
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Decreased sensory nerve conduct... ORPHA:298
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Diabetes insipidus, Hypogonadism, Limb muscle... ORPHA:97229
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Caudal Appendage-Deafness Syndrome
Short stature, Caudal appendage, Cryptorchidism ORPHA:1123
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Degeneration of the lateral cortico... ORPHA:275872
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Aids Wasting Syndrome
Abnormal gonadotropin-releasing hormone concentration, Cachexia, Skeletal muscle atrophy, Weight ... ORPHA:90081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb muscle weakness, Thenar muscle atrophy, Distal lower limb amyotrophy, Decreased... OMIM:619112
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness... ORPHA:496756
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Encephalopathy, Decreased activity of mitochondrial complex IV, Pulmona... OMIM:616045
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Scoliosis, Decreased compound muscle action potential amplitude, Multiple joint cont... OMIM:301830
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Hypertrophic cardiomyopathy, Encephalopathy, Myopathy, Decreased activity of ... OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Cerebral atrophy, Hypertrophic cardiomyopathy, Enc... OMIM:618235
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of peripheral nerve condu... ORPHA:48431
Stt3B-Cdg
Small scrotum, Optic atrophy, Cerebellar atrophy, Failure to thrive, Respiratory distress, Intrau... ORPHA:370924
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle ... OMIM:607684
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Optic atrophy, Cerebellar atrophy, Failure to thrive, Respiratory distress, Intrau... OMIM:615597
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Myopathy, Cachexia, Hyperlordosis, Flexion contracture, Spinal rigidity ORPHA:157973
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Immunodeficiency 95
Respiratory distress, Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 l... OMIM:619773
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials OMIM:608673
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... OMIM:619042
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations OMIM:116860
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Aicardi-Goutieres Syndrome 2
Encephalopathy, Lymphocytosis, Cerebral atrophy OMIM:610181
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Decreased motor nerve conduction velo... ORPHA:101077
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
Flynn-Aird Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Primary adrenal insufficiency, Type II diabet... ORPHA:2047
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Encephalopathy, Decreased activity of mitochondrial complex I, Brain... OMIM:618229
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Epileptic encephalopathy, Encephalopathy OMIM:616341
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Encephalopathy, Myopathy, Decreased activi... OMIM:618234
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type... OMIM:300580
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Small... OMIM:618484
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal motor nerve ... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... OMIM:614751
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hypertrophic cardiomyopathy, Decreased activity of mi... OMIM:613561
Bowen-Conradi Syndrome
Camptodactyly of finger, Cryptorchidism, Severe postnatal growth retardation, Severe intrauterine... ORPHA:1270
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Cerebellar atrophy, Encephalopathy, Foot dorsiflexor weakness, Spinal muscular... OMIM:617207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... ORPHA:435387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, T... OMIM:615575
Diencephalic Syndrome
Optic atrophy, Long penis, Decreased body weight, Cachexia, Abnormality of the hypothalamus-pitui... ORPHA:1672
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Cerebral atrophy, Encephalop... OMIM:613759
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis OMIM:611225
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Proximal muscle weakness in lower limbs, Decreased motor nerve conduction velocity, Decreased amp... OMIM:618912
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:101078
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Encephalopathy, Brain atrophy, Cardiomyopathy OMIM:616647
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Decreased compound muscle action potential amplitude, Myopathy, Flexion c... OMIM:618323
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Charcot-Marie-Tooth Disease Type 4A
Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphragm, Quadriceps muscle... ORPHA:99948
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Muscle fiber... OMIM:256030
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Hyperlordosis, EEG abnormality, Short statur... ORPHA:408
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Distal lower limb amyotrophy, Abnormality of peripheral nerve conduction, Abnormal... ORPHA:431329
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Encephalopathy, Decreased activity of mitochondrial complex I, Myopathy OMIM:618246
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle muscle weaknes... ORPHA:352470
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Renpenning Syndrome
Severe short stature, Growth delay, Skeletal muscle atrophy, Decreased testicular size, Cachexia,... ORPHA:3242
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, External genital hypoplasia, Obesity, Short stature OMIM:615993
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Ataxia-Telangiectasia
Abnormality of chromosome stability, Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, F... ORPHA:100
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Scoliosis, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased motor nerve conduction velocity, Cerebral atrophy, Decreased... OMIM:604168
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Decr... OMIM:604320
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Encephalopathy, Hepatic steatosis, Gliosis OMIM:615119
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Encephalopathy, Apnea, Decreased activity of mitochondrial ATP synthase complex OMIM:615228
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Small scrotum, Cryptorchidism, Rectus femoris mus... ORPHA:98905
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Myopathy, Lo... ORPHA:91130
Winchester Syndrome
Corneal opacity OMIM:277950
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased sensory ne... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb muscle weakness, D... OMIM:613287
Rett Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexi... OMIM:312750
Cednik Syndrome
Optic atrophy, Pachygyria, Hypogonadism, Polymicrogyria, Abnormality of peripheral nerve conducti... ORPHA:66631
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity, Distal amyotrophy OMIM:158580
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower limb muscle weak... ORPHA:99013
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Short stature, Hypoplasia of penis ORPHA:85274
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:302801
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Encephalopathy, Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia,... ORPHA:136
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration, Skeletal muscle atrophy ORPHA:868
Gordon Syndrome
Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Short stature, Scoliosis ORPHA:376
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness of orbicularis oculi muscle, S... ORPHA:2596
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Postnatal grow... OMIM:615419
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Encephalopathy, Stroke-like episode, Ragged-red muscle fibers, Myopathy... OMIM:540000
Oliver-Mcfarlane Syndrome
Severe short stature, Distal amyotrophy, Decreased response to growth hormone stimulation test, C... OMIM:275400
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass, Increased mitochondrial... ORPHA:263297
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Cervical spinal canal stenosis, Obesity, Cryptorchidism, Scheuermann-... OMIM:301900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ragged-red muscle fibers OMIM:613662
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormality of peripheral nerve conduction, Lower limb muscle we... ORPHA:101001
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Respiratory... OMIM:604377
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Respiratory distress, Abnormality of the liver, Ra... ORPHA:254864
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebral cortical atrophy, Neuropathic spinal arthropathy, Redu... ORPHA:370968
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Neurodegeneration, Lymphopenia, Leukopenia, Postnatal growth ret... OMIM:620210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Global brain atrophy, Cerebral atrophy, Failure to thrive in infancy, Intrauterine growth retarda... OMIM:616801
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Hypopituitarism,... ORPHA:449285
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Splenomegaly, Short stature, A... ORPHA:93476
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Abnormal motor nerv... ORPHA:100998
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Intellectual Developmental Disorder, X-Linked 82
EEG abnormality, Scoliosis, Kyphosis OMIM:300518
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis OMIM:615376
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Decreased motor nerve conduction velocity, Cerebral atrophy, Hypothyroidism... OMIM:619851
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Foot dorsiflexor weakness, Lower limb amyotrophy, Optic disc pallor, Scoliosis, Ky... OMIM:617087
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial dip... OMIM:618184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:607678
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo... ORPHA:83469
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system ORPHA:204
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Postnatal growth retardation, Cryptorchidism, Bilateral facia... ORPHA:319332
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Familial Infantile Bilateral Striatal Necrosis
Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Atrophy/Degeneration involv... ORPHA:225154
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Foo... OMIM:606595
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Epileptic encephalopathy, Decreased activity of mitochondrial complex... ORPHA:477774
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Decreased muscle mass, Cachexia, Neuronal loss in ... ORPHA:85278
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... OMIM:620011
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Necrotizing encephalopathy, Cerebral degeneration OMIM:260970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous system OMIM:600795
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Aicardi-Goutieres Syndrome 3
Encephalopathy, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Propionic Acidemia
Cardiomyopathy, Cerebral atrophy, Pancytopenia, Apnea, Acute encephalopathy, Hepatomegaly, Tachyp... OMIM:606054
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Cryp... ORPHA:261483
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased motor... OMIM:616687
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Decreased nerve conduction velocity, Pancytope... OMIM:159550
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... ORPHA:101081
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Stroke-like episode, Astrocytosis, Neu... ORPHA:282166
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Epileptic encephalopathy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopat... OMIM:614299
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fib... ORPHA:352447
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Distal amyo... OMIM:601098
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Decreased nerve conduction velocity, Cachexia, Short stature, Abnormalit... ORPHA:1933
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress, Hepatic steatosis, Myopathy, Hypoglycemic encephalopathy ORPHA:26792
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Respirat... OMIM:212140
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Abnormal motor evoked potentials, Upper limb muscle weakness, Lower limb muscl... ORPHA:99939
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Adrenal insufficiency, Cryptorc... OMIM:617053
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal ... OMIM:620632
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Intellectual Developmental Disorder, Autosomal Dominant 46
Epileptic encephalopathy, Brain atrophy OMIM:617601
Monomelic Amyotrophy
Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of anterio... ORPHA:65684
Perching Syndrome
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture OMIM:617055
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Thenar muscle atrophy, Distal lower limb amyotrophy, Lower l... ORPHA:352675
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:600361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Developmental And Epileptic Encephalopathy 71
Epileptic encephalopathy, Cheyne-Stokes respiration, Gliosis OMIM:618328
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Optic atrophy, Failure to thrive, Respiratory dist... OMIM:608799
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb... ORPHA:3115
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Bilateral crypt... OMIM:619542
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Knee flexion contracture, Decreased body weight, Short stature, Simplified gyral ... OMIM:616681
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Dystonia, Increased mean corpuscular volume OMIM:277410
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Atrophy/Degeneration affecting the brains... OMIM:619862
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Short neck, Cachexia, ... ORPHA:85293
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity... OMIM:500013
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a... OMIM:603511
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Encephalopathy, Cerebral atrophy, Neuronal loss in central nervous system OMIM:615924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:605589
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Sneddon Syndrome
Lymphopenia, Ischemic stroke, Stroke, Cerebral hemorrhage, Decreased circulating total IgM, Facia... OMIM:182410
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Cerebellar atrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Pr... OMIM:615084
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Decreased circulating carnitine concentration, Congestive heart failure, ... ORPHA:99901
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Parastremmatic Dwarfism
Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Scoliosis, Hypospadias, Failure to thrive OMIM:300934
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:605253
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Cryptorchidism, Short neck, Camptodactyly, Arthrogryposis multiplex cong... OMIM:618393
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-... ORPHA:75233
Krabbe Disease
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Diffuse... OMIM:245200
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci... ORPHA:812
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Decreased circulating IgG level, Aplastic anemia, Hemophagocyt... OMIM:308240
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... OMIM:605809
Developmental And Epileptic Encephalopathy 14
Epileptic encephalopathy, Gliosis, Neuronal loss in central nervous system, Cerebral cortical atr... OMIM:614959
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Intrauterine growth retardation, Knee flexion contracture, Hip contrac... ORPHA:371364
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Encephalopathy, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Cryptorchidism, Short neck, Scoliosis... OMIM:611890
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Thrombocytopenia, Camptodactyly, Scoliosis OMIM:619751
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... OMIM:605285
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Polymicrogyria, Hypogonadism, Decreased testicular size, Cerebellar vermis atrophy, Distal lower ... OMIM:300354
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Developmental And Epileptic Encephalopathy 60
Epileptic encephalopathy, Global brain atrophy OMIM:617929
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Aredyld Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Type II diabetes mellitus, Splenomegal... ORPHA:1133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Thenar muscle atrophy, Decreased motor nerve conduction velocity OMIM:620111
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Cerebellar atrophy, ... OMIM:606612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Obesity, T... ORPHA:3085
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorchidism, Respiratory ... OMIM:300219
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Cryptorchidism, Hypsarrhythmia, Flexion contracture, Scoliosis OMIM:618298
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epileptic encephalopathy, Cerebral cortical atrophy, Distal amyotrophy, Cerebellar atrophy, Encep... OMIM:271245
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cryptorchidism,... OMIM:619110
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... OMIM:619774
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Decreased nerve conduction velocity, Intrauterine g... ORPHA:319514
Immunodeficiency 44
Encephalopathy, Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Dec... OMIM:616636
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Encephalopathy OMIM:610090
Alexander Disease Type I
Cachexia, Scoliosis, Cerebellar atrophy, Failure to thrive ORPHA:363717
Warburg Micro Syndrome 4
Small scrotum, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Decreased motor nerv... OMIM:615663
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Decre... OMIM:600882
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Mogs-Cdg
Decreased circulating IgG level, Optic atrophy, Respiratory distress, External genital hypoplasia... ORPHA:79330
Developmental And Epileptic Encephalopathy 69
Epileptic encephalopathy, Cerebral cortical atrophy, Congenital contracture, Corpus callosum atro... OMIM:618285
Mucolipidosis Iv
Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatic steatosis, Myopathy, Distal arthrogryposis, Cachexia, Exertional... ORPHA:42
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Developmental And Epileptic Encephalopathy 11
Epileptic encephalopathy, Global brain atrophy OMIM:613721
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig... OMIM:254210
Camurati-Engelmann Disease
Optic atrophy, Skeletal muscle atrophy, Abnormality of the vertebral column, Hypogonadism, Slende... ORPHA:1328
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Decreased nerve conduction velocity, Intrauterine growth retardation, Cryptorch... ORPHA:565624
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity, Short stature, Pre... ORPHA:2928
Hyperekplexia 4
Cerebral atrophy, Encephalopathy, Distal arthrogryposis, Camptodactyly, Flexion contracture OMIM:618011
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy, Delayed puberty, Anemia, Scoliosis, Kyphosis ORPHA:2598
Severe Neonatal-Onset Encephalopathy With Microcephaly
Encephalopathy, Apnea, Cerebral atrophy ORPHA:209370
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Decreased nerve conduction velocity, Facial diplegia, Foot... ORPHA:329478
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Encephalopathy, Ra... ORPHA:1349
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Cryptorchidism, Short neck, Flexion co... ORPHA:178148
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Encephalopathy, Decreased activity of mitochon... OMIM:618120
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Distal arthrogryposis, Decreased motor nerve conduction velocity, Decr... OMIM:611228
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Facial diplegia, Cachexia, Hypomim... OMIM:618186
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension,... OMIM:614857
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Abnormal tendon morphology, Decreased amplitude of sensory ac... ORPHA:85446
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Polymicrogyria, Cryptorchidism, Abnormality of neuronal migration, EEG abnorma... OMIM:604317
Mitochondrial Complex I Deficiency, Nuclear Type 8
Encephalopathy, Decreased activity of mitochondrial complex I, Pancreatitis OMIM:618230
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Splenomegaly, Diffuse cerebral atrophy, Hepatomegaly, Sho... OMIM:230650
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Classic Glucose Transporter Type 1 Deficiency Syndrome
Encephalopathy, Abnormal erythrocyte morphology, Central apnea ORPHA:71277
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Lack of T cell function, Increased circ... ORPHA:277
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ... ORPHA:75840
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory distress, Failure to thrive in infancy, Myopathy, Weakness o... ORPHA:254875
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Short stature, Hypoplasia of penis ORPHA:3055
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cryptorchidism, Hypogonadotropic hypogonadi... OMIM:619310
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Encephalopathy, Pulmonary hemorrhage, Decreased pl... OMIM:603585
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Fadd-Related Immunodeficiency
Hepatic fibrosis, Encephalopathy, Pulmonary artery atresia, Cerebral atrophy ORPHA:306550
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Encephalopathy, Cryptorchidism, Bradycardia,... OMIM:618815
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Kyphosis ORPHA:1875
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Hypertrophic cardiomyopathy, Encephalopathy, Apnea, Decreased activity of the p... OMIM:614462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress, Splenomegaly, Stroke, Hepatomegaly, Pancreatitis, Neutropen... ORPHA:79312
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Growth delay OMIM:614932
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy OMIM:608895
Pulmonary Blastoma
Dyspnea, Weight loss ORPHA:64741
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemo... ORPHA:238459
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... ORPHA:2926
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Optic atrophy, Failure to thrive in infancy, Cachexia, Short stature, ... ORPHA:702
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Cerebellar ... OMIM:248800
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Respira... OMIM:619272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction ve... OMIM:218000
3-Methylglutaconic Aciduria Type 9
Encephalopathy, Decreased activity of mitochondrial ATP synthase complex, Cerebral atrophy ORPHA:505216
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Cerebral atrophy, Encephalopathy, Decreased activity of mitochondrial co... OMIM:245400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Acute encephalopathy OMIM:618113
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Encephalopathy, Decreased activity of... OMIM:615838
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Skeletal muscle atrophy, Cardiomyopathy, Congestiv... ORPHA:26791
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Abnormal cardiovascular system physi... ORPHA:50251
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Decreased motor nerve conduction velocity, Failur... OMIM:619026
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Short stature, Kyphosis, Cerebral atrophy OMIM:618453
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle atrophy, Cerebellar atrophy, A... ORPHA:98755
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Encephalopathy, Decreased level of coenzyme Q10 in skeletal... OMIM:614654
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb... ORPHA:85212
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Paraparesis, Intracranial hemorrhage ORPHA:140989
Charcot-Marie-Tooth Disease Type 4G
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal lower limb muscle weakness, ... ORPHA:99953
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis OMIM:611087
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay OMIM:619164
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... ORPHA:300605
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria ORPHA:171703
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Encephalopathy, Decreased activity of mitochondri... ORPHA:17
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As... OMIM:617052
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality OMIM:610951
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Hip contracture, K... OMIM:615290
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Encephalopathy, Decreased activity of mitochondrial complex I, Decreased activi... OMIM:615330
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased response to growth hormone stimulation tes... ORPHA:280679
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Small for gestational age, Cerebellar atrophy, Failure to thrive, ... OMIM:214150
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Parietal cortical atrophy, Cryptorchidism, Frontal cortical atrophy, Short neck, A... OMIM:618766
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Intellectual Developmental Disorder, Autosomal Dominant 5
Epileptic encephalopathy, Brain atrophy, Torticollis, Congenital muscular torticollis OMIM:612621
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988