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Gene: Parl MGI:1277152

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Parltm1a(EUCOMM)Hmgu HET Early adult 1.88×10-05
corneal opacity Parltm1a(EUCOMM)Hmgu HET   Early adult 1.76×10-05
preweaning lethality, incomplete penetrance Parltm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased startle reflex Parltm1a(EUCOMM)Hmgu HET Early adult 7.80×10-06

Download data as:  TSV  XLS

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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
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Weakness of facial musculature, Weak grip, ... OMIM:619519
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Abnormal mitochondrial morphology ORPHA:111
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosi... OMIM:614399
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Lower limb amyotrophy, Am... ORPHA:90103
Mitochondrial Complex I Deficiency, Nuclear Type 14
Encephalopathy, Brain atrophy, Decreased activity of mitochondrial complex I, Hypertrophic cardio... OMIM:618236
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Short stature, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:2471
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib... ORPHA:457050
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Upp... ORPHA:139536
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Scoliosis, Distal upper limb amyotrophy, Kyphosis, Distal low... ORPHA:101075
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Encephalopathy, Cardiac arrest, Splenomegaly, Flexion contrac... ORPHA:77260
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Cerebral atrophy, Premature pubarche, Decreased nerve conduction velocity, Foot jo... ORPHA:457205
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Decre... OMIM:613642
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex I, Hypertrophic cardi... OMIM:618378
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Cirrhosis, Anemia, Macrovesicular hepatic steatosis,... ORPHA:298
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Riboflavin Transporter Deficiency
Diabetes insipidus, Abnormal cranial nerve morphology, Cachexia, Facial palsy, Abnormal autonomic... ORPHA:97229
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Gliosis, Paraparesis, Abnormal mito... ORPHA:275872
Caudal Appendage-Deafness Syndrome
Short stature, Caudal appendage, Cryptorchidism ORPHA:1123
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Aids Wasting Syndrome
Cachexia, Skeletal muscle atrophy, Weight loss, Abnormal gonadotropin-releasing hormone concentra... ORPHA:90081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Decreased... OMIM:619112
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Distal amyotrophy, Cerebellar atrophy, Spinal muscular atrophy, ... ORPHA:496756
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Encephalopathy, Decreased activity of mitochondrial complex I, Pulmonar... OMIM:616045
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Distal amyotrophy, Compound muscle action p... OMIM:616040
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Multiple joint contractures, Decreased compound muscle action potential amplitude, S... OMIM:301830
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Mitochondrial Complex I Deficiency, Nuclear Type 15
Encephalopathy, Decreased activity of mitochondrial complex I, Cerebellar atrophy, Hypertrophic c... OMIM:618237
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cerebral atrophy, Hepatomegaly, Bradycardia, Encephalopathy, Decreased circulating carnitine conc... OMIM:618235
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Flexion contracture of toe, Scoliosis, Finger joint contracture, Kyphosis, ... ORPHA:48431
Stt3B-Cdg
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Thrombocytopenia, Sma... ORPHA:370924
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Distal amyotr... OMIM:607684
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Thrombocytopenia, Sma... OMIM:615597
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Hyperlordosis, Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Respiratory distress, Lymphop... OMIM:619773
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Scoliosis, Distal amyotrophy, Decreased amplitude of sensory action potentials OMIM:608673
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Respiratory distress, Calf muscle hypertrophy, Scoliosis, Tr... ORPHA:86812
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Scoliosis, Short stature, Increased variability in muscle fiber diameter, Hip ... OMIM:619042
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... ORPHA:100070
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Hepatic vascular malformations, Intracranial hemorrhage OMIM:116860
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy ORPHA:1216
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Cerebral atrophy, Encephalopathy OMIM:610181
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Decreased compound muscle action potential amplitude, Distal amyotrophy, Spi... OMIM:605726
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal upper limb amyotrophy, Distal amyotrophy, Scoliosis, Decreased motor nerve conduction velo... ORPHA:101077
Moynahan Syndrome
Short stature, Cachexia, Hypogonadism ORPHA:2574
Flynn-Aird Syndrome
Cachexia, Scoliosis, Kyphosis, Cerebral cortical atrophy, Primary adrenal insufficiency, Skeletal... ORPHA:2047
Mitochondrial Complex I Deficiency, Nuclear Type 7
Encephalopathy, Brain atrophy, Decreased activity of mitochondrial complex I, Hypertrophic cardio... OMIM:618229
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Developmental And Epileptic Encephalopathy 30
Encephalopathy, Epileptic encephalopathy, Respiratory distress OMIM:616341
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Macrovesicular hepatic steatosis, Hepat... OMIM:618234
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Decreased body weight, Facial palsy, Short statu... OMIM:300580
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Increased variability in... OMIM:618484
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Atrophy/Degeneration affecting the brainstem, Scoliosis, Cer... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Thenar muscle atrophy, Perone... OMIM:614751
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Respiratory distress, Ragged-red muscle fibers, Decreased activity of mitochondrial... OMIM:613561
Bowen-Conradi Syndrome
Severe postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Campt... ORPHA:1270
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Encephalopathy, Distal amyotrophy, Cerebellar atrophy, Spinal muscular atrophy, Foot dorsiflexor ... OMIM:617207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Decreased nerve condu... ORPHA:435387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the intrinsic hand ... OMIM:615575
Diencephalic Syndrome
Optic atrophy, Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Howell-Jolly bodies, Encephalopathy, Portal inflammation, Pulmonary artery atre... OMIM:613759
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Distal lower limb muscle weakness, Scoliosis, Decreased amplitude of sensory action potentials, D... OMIM:618912
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Decreased nerve conduction velocity, Skeletal muscle atrophy, Kyphosis ORPHA:101078
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Nemaline bodies, Limb-gird... OMIM:620386
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Brain atrophy, Encephalopathy, Cardiomyopathy OMIM:616647
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis, Gener... OMIM:618323
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Distal amyotrophy, Scoliosis, Hand muscle weakness, Neuropat... ORPHA:99948
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 mu... OMIM:256030
Silver-Russell Syndrome
Postnatal growth retardation, Hypospadias, Abnormal vagina morphology, Abnormal male external gen... ORPHA:813
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormality... ORPHA:168563
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Exertional dyspnea, Limb-girdle muscle weakness, Multiple joint c... ORPHA:352470
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Intramuscular hematoma, Oral cavity bleeding, Ging... ORPHA:331
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Short stature, Adrenocortical hypoplasia, EEG abnormality, Cryptorchidi... ORPHA:408
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb muscle weakness, Scoliosis, Upper limb muscle weakness, Decreased motor nerve c... 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
Encephalopathy, Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies OMIM:618246
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Brain atrophy, Scoliosis,... OMIM:615284
Renpenning Syndrome
Hypospadias, Cachexia, Decreased testicular size, Growth delay, Severe short stature, Skeletal mu... ORPHA:3242
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Hyperlordosis, S... OMIM:600175
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Bardet-Biedl Syndrome 16
External genital hypoplasia, Respiratory distress, Short stature, Obesity, Hypogonadism OMIM:615993
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Distal ... OMIM:607706
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Anemia, Epidural hemorrhage, Intramuscular hematoma... ORPHA:169802
Ataxia-Telangiectasia
Delayed puberty, Abnormality of chromosome stability, Decreased circulating antibody level, Abnor... ORPHA:100
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Scoliosis, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1188
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Acute rhabdomyolysis, Kyphoscoliosis, Cerebral atrophy, Axonal degeneration, Hypergonadotropic hy... OMIM:604168
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Spinal muscular atro... OMIM:604320
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Encephalopathy, Gliosis, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Splenic rupture, Join... ORPHA:98878
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Hand ... 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
Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Small scrotum, Type... ORPHA:98905
Winchester Syndrome
Corneal opacity OMIM:277950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Abnormali... ORPHA:91130
Myopathy, X-Linked, With Postural Muscle Atrophy
Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Distal amyotrophy, Scoliosis, Limb mu... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot dorsiflexor weakness, Di... OMIM:613287
Rett Syndrome
Cachexia, Scoliosis, Kyphosis, Cerebral cortical atrophy, Short stature, Apnea, Skeletal muscle a... OMIM:312750
Cednik Syndrome
Optic atrophy, Polymicrogyria, Short stature, Pachygyria, Hypogonadism, Abnormality of peripheral... ORPHA:66631
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Cerebellar atrophy, Upper limb muscle weakness, Abnormal mitochondrial ... ORPHA:99013
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy, Abnormal motor nerve conduction velocity OMIM:158580
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:302801
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration ORPHA:868
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Encephalopathy, Brain atrophy, Stroke, Hypertension, Transient ischemic attack, ... ORPHA:136
Gordon Syndrome
Scoliosis, Short stature, Camptodactyly of finger, Decreased muscle mass, Cryptorchidism ORPHA:376
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoi... ORPHA:2596
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Scoliosis, Joint contracture, Skeletal muscle atroph... OMIM:615419
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... ORPHA:36382
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Rimmed vacuoles, Hyperlordosis, Kyphosis, Increased variability in mu... OMIM:300718
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Encephalopathy, Ragged-red muscle fiber... OMIM:540000
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Dist... OMIM:275400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Exertional dyspnea, Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy... ORPHA:263297
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Kyphosis ORPHA:99014
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Scoliosis, Kyphosis,... OMIM:301900
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormality of peripheral nerve conduction, Lower limb muscle we... ORPHA:101001
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Cachexia, Slender build, Weight loss OMIM:613662
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Hepatomegaly, Respiratory distress, Brain atrophy, Gliosis, Neuronal loss in ce... OMIM:604377
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Respiratory distress, Decreased circulating carn... ORPHA:254864
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, Decreased motor ... OMIM:601382
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Decreased circulating IgG level, Leuko... OMIM:620210
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylat... ORPHA:370968
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cerebral atrophy, Global brain atrophy, Facial hypotonia, Cachexia, Scoliosis, Short neck, Hip co... OMIM:616801
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Stroke, Gingival bleeding, Cerebral ischemia, Hypotension, Muscle... ORPHA:449285
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Hepatomegaly, Abnormal nerve conduction velocity, Abnormality of t... ORPHA:93476
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Hand muscle atrophy... ORPHA:100998
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, EEG abnormality, Kyphosis OMIM:300518
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Scoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:615376
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexo... OMIM:617087
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, B lymphocytopenia, Hypothyroidism, Severe short stature, Flexion contracture, D... OMIM:619851
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Respiratory distress OMIM:619099
Neuropathy, Congenital Hypomyelinating, 2
Scoliosis, Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy, Decreased motor nerve con... OMIM:618184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:607678
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress ORPHA:238329
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy,... ORPHA:83469
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis ORPHA:204
Charcot-Marie-Tooth Disease Type 2B1
Distal lower limb muscle weakness, Axonal degeneration, Distal upper limb amyotrophy, Distal amyo... ORPHA:98856
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Bilateral facial palsy, Scoliosis, Arthrogryposis multiplex congeni... ORPHA:319332
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scoliosis, Scapular winging, EMG: myopathic a... OMIM:608099
Mulibrey Nanism
Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Upper limb muscle weakness, Basal ganglia gliosis, Atrophy/Degeneration involving t... ORPHA:225154
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Scoliosis, Distal amyotrophy, Upper limb muscle weakness, Fo... OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Claw hand deformity, Decreased motor nerve conduction velocity, Upper limb amyotrophy, Foot dorsi... OMIM:606595
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Epileptic encephalopathy, Decreased activity of mitochondrial complex I... ORPHA:477774
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Spinal rigidity, Multiple joint contractures, Scoliosis, EMG: myopathic abnormal... ORPHA:486815
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Christianson Syndrome
Cachexia, Neuronal loss in central nervous system, Cerebellar atrophy, Cerebral cortical atrophy,... ORPHA:85278
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Necrotizing encephalopathy OMIM:260970
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Axonal degeneration, Paradoxical respiration, Respiratory distress, ... OMIM:620011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Neuronal loss in central nervous system, Astrocytosis OMIM:600795
Aicardi-Goutieres Syndrome 3
Encephalopathy, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Propionic Acidemia
Cerebral atrophy, Cerebellar hemorrhage, Hepatomegaly, Anemia, Pancreatitis, Limb hypertonia, Pan... OMIM:606054
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Short stature, Hypogonadism, Intrauterine growth re... ORPHA:261483
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of the intri... OMIM:616687
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Anemia, Pancytopenia, Cerebellar atrophy, Thrombocytopenia, ... OMIM:159550
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Decreased sensory nerve conduction velocity, Calf muscle hypertrophy, Skeletal mu... ORPHA:101081
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Global brain atrophy, Neuronal loss in central nervous system, Astrocytosis, Cent... ORPHA:282166
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Weakness of facial musculature, Ragged-red muscle fibers, Cerebel... ORPHA:352447
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Respiratory distress, Decreased activity of mitochondrial respiratory chain, Epilep... OMIM:614299
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Scoliosis, Increased variability in muscle fiber diameter, Simplified gyral pattern, Skeletal mus... OMIM:620542
Bethlem Myopathy 2
Scoliosis, Scapular winging, Kyphosis, Increased variability in muscle fiber diameter, Flexion co... OMIM:616471
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Distal amyotrophy, Decreased nerve conduction ve... OMIM:601098
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Hype... OMIM:617760
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Intra... ORPHA:169805
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Spinal rigidity, Nocturnal hypoventilation, Type 1 and type 2 muscle fiber mi... OMIM:602771
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Short stature, Abnormality of visual evoked potent... ORPHA:1933
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hypoglycemic encephalopathy, Hepatic steatosis, Myopathy ORPHA:26792
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Respiratory distress ORPHA:141152
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Encephalop... OMIM:212140
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Distal amyotrophy, EMG: myopathic abnormalities, Upper limb ... ORPHA:99939
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Mirage Syndrome
Anemia, Hypospadias, Patent ductus arteriosus, Scoliosis, Adrenal hypoplasia, Decreased body weig... OMIM:617053
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an... OMIM:620632
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scoliosis... ORPHA:353
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... ORPHA:824
Intellectual Developmental Disorder, Autosomal Dominant 46
Brain atrophy, Epileptic encephalopathy OMIM:617601
Perching Syndrome
Scoliosis, Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... ORPHA:65684
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Lower l... ORPHA:352675
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Limb mus... OMIM:600361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Decreas... OMIM:605588
Developmental And Epileptic Encephalopathy 71
Gliosis, Epileptic encephalopathy, Cheyne-Stokes respiration OMIM:618328
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Muscular dystrophy, Ankle flexion contracture, Pontocerebellar atrophy, Hepatomega... OMIM:608799
Roussy-Lévy Syndrome
Kyphoscoliosis, Distal amyotrophy, Scoliosis, Intrinsic hand muscle atrophy, Skeletal muscle atro... ORPHA:3115
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Bilateral cryptorchidism, Cryptorchidism, Short sta... OMIM:619542
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Short stature, Simplified gyral pattern, Knee flexion contracture, Cryptor... OMIM:616681
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Dystonia OMIM:277410
Erythrocytosis, Familial, 1
Myocardial infarction, Exertional dyspnea, Increased red blood cell mass, Hypertension, Increased... OMIM:133100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased activity of mitochondr... OMIM:500013
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Dyspnea, Uppe... ORPHA:803
Spinocerebellar Ataxia, Autosomal Recessive 32
Hypomimic face, Torticollis, Abnormal nerve conduction velocity, Atrophy/Degeneration affecting t... OMIM:619862
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Scoliosis, Kyphosis, Decreased testicular size, Camptodactyly of f... ORPHA:85293
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Encephalopathy, Hepatomegaly OMIM:615924
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, S... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Lymphopenia, Decreased ... OMIM:182410
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Scoliosis, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:101082
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Cerebellar atrophy, Kyphosis, Hypergonad... OMIM:615084
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Facial palsy, Limb muscle weakness, Foot dorsiflexor weakness, Decreased motor... OMIM:118210
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Decreased circulatin... ORPHA:99901
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Severe short stature, Flexion contracture, Short neck OMIM:168400
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Scoliosis, Hypospadias, Respiratory distress OMIM:300934
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Distal amyotrophy, ... OMIM:605253
Fetal Akinesia Deformation Sequence 4
Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Short neck,... OMIM:618393
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Wolman Disease
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Growth delay, Splenomegaly, Adrenal calci... ORPHA:75233
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Fail... OMIM:245200
Sialidosis Type 1
Decreased nerve conduction velocity, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, ... ORPHA:812
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis, Epileptic encephalop... OMIM:614959
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormal... ORPHA:371364
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Factor Vii Deficiency
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... OMIM:227500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Increased variability in muscle fiber diameter, Flexion contracture, ... OMIM:300717
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Encephalopathy OMIM:604218
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Scoliosis, Facial diplegia, Kyphosis, Arthrogryposis multiplex congenita, Skele... OMIM:611890
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Stuve-Wiedemann Syndrome 2
Respiratory distress, Scoliosis, Camptodactyly, Thrombocytopenia, Intrauterine growth retardation OMIM:619751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Abnormal nerve conduction velocity, ... ORPHA:2932
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb muscle weakness, Claw hand deformity, Scoliosis, Decreased motor nerve conducti... OMIM:605285
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Polymicrogyria, Cerebellar vermis atrophy, Kyphosis, Decreased test... OMIM:300354
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Developmental And Epileptic Encephalopathy 60
Global brain atrophy, Epileptic encephalopathy OMIM:617929
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Aredyld Syndrome
Hepatomegaly, Cachexia, Scoliosis, Short stature, Splenomegaly, Type II diabetes mellitus, Intrau... ORPHA:1133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Thenar muscle atrophy OMIM:620111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG: myopathic abnormal... OMIM:606612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hyperlordosis, Cerebellar atrophy, Kyphosis, Hypergonadot... ORPHA:3085
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Respiratory distress, Glandular hypospadias, Bifid scrotu... OMIM:300219
Developmental And Epileptic Encephalopathy 70
Hypsarrhythmia, Scoliosis, Cerebral cortical atrophy, Flexion contracture, Cryptorchidism OMIM:618298
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar cortical atrophy, Encephalopathy, Atrophy/Degeneration affecting the brainstem, Epilep... OMIM:271245
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Scoliosis, Elbow flexion contracture, Decreased body weight, Wrist ... OMIM:619110
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hypertonia, Hip contra... ORPHA:319514
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Encephalopathy, Anemia OMIM:610090
Alexander Disease Type I
Cachexia, Scoliosis, Failure to thrive, Cerebellar atrophy ORPHA:363717
Warburg Micro Syndrome 4
Optic atrophy, Severe postnatal growth retardation, Cerebellar atrophy, Decreased testicular size... OMIM:615663
Immunodeficiency 44
Encephalopathy, Abnormal circulating IgG level, Lymphopenia, Decreased circulating total IgM, Dec... OMIM:616636
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Distal a... OMIM:600882
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, Nemaline bodies, Inc... OMIM:117000
Mogs-Cdg
Optic atrophy, Hypoventilation, External genital hypoplasia, Hepatomegaly, Respiratory distress, ... ORPHA:79330
Developmental And Epileptic Encephalopathy 69
Epileptic encephalopathy, Congenital contracture, Cerebral cortical atrophy, Corpus callosum atro... OMIM:618285
Mucolipidosis Iv
Opacification of the corneal stroma, Dystonia, Corneal opacity OMIM:252650
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exertional dyspnea, Cachexia, Distal arthrogryposis, Skeletal muscle atrophy, Hepat... ORPHA:42
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ... OMIM:616852
Developmental And Epileptic Encephalopathy 11
Global brain atrophy, Epileptic encephalopathy OMIM:613721
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion contracture, Upper limb... ORPHA:1143
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Camurati-Engelmann Disease
Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Optic nerve compression, Abnormality of the... ORPHA:1328
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Decreased nerve conduction velocity, Limb hypertonia, Congenital foot contractu... ORPHA:565624
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Decreased nerve conduction velocity, Short stature, Camptodactyl... ORPHA:2928
Barth Syndrome
Congestive heart failure, Hypochromic microcytic anemia, Tricuspid regurgitation, Hypertrophic ca... OMIM:302060
Hyperekplexia 4
Cerebral atrophy, Encephalopathy, Camptodactyly, Flexion contracture, Distal arthrogryposis OMIM:618011
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis ORPHA:275864
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Generalized limb muscle atrophy, Anemia, Scoliosis, Kyphosis, Myopathy ORPHA:2598
Severe Neonatal-Onset Encephalopathy With Microcephaly
Cerebral atrophy, Apnea, Encephalopathy ORPHA:209370
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Scapular winging, Increased variability in muscle fiber di... OMIM:618129
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Decreased nerve conduction velocity, Necrotizi... ORPHA:329478
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Encephalopathy, Ragged-red muscle fibers, Hypertension, Dyspnea, Hypert... ORPHA:1349
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Short neck, Flexion contracture, Minicor... ORPHA:178148
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Encephalopathy, Decreased activity of mitochondrial ATP synthase compl... OMIM:618120
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Z-band streaming, Cryptorchidism, Centrally nucleated skelet... OMIM:618823
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Neuropathy, Congenital Hypomyelinating, 3
Hypomimic face, Cachexia, Facial diplegia, Cerebellar atrophy, Limb joint contracture, Flexion co... OMIM:618186
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Abnormal posturing, Normochromic anemia, Pulmonary arterial hypertension, Coarc... OMIM:614857
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Failure to thrive, Abnormality of neuronal migration, Si... OMIM:604317
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Abnormality of the thenar eminence, Abnormal intervertebral ... ORPHA:85446
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Spinal rigidity, Scoliosis, Facial diplegia, Scapular winging, E... ORPHA:171439
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Short stature, Diffuse c... OMIM:230650
Immunodeficiency 102
Hepatomegaly, Anemia, Partial absence of specific antibody response to Haemophilus influenzae typ... OMIM:301082
Mitochondrial Complex I Deficiency, Nuclear Type 8
Encephalopathy, Decreased activity of mitochondrial complex I, Pancreatitis OMIM:618230
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Scapular winging, M... OMIM:616228
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F... ORPHA:277
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomeg... ORPHA:77297
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,... ORPHA:75840
Classic Glucose Transporter Type 1 Deficiency Syndrome
Encephalopathy, Abnormal erythrocyte morphology, Central apnea ORPHA:71277
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Foot dorsiflexor wea... OMIM:613641
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of fa... ORPHA:254875
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Short stature, Obesity, Cryptorchidism ORPHA:3055
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cerebellar atrophy, Corpus callosum atrophy, Growth delay, Failure to thrive, Cryp... OMIM:619310
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Encephalopathy, Thrombocytopenia, Macro... OMIM:603585
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Fadd-Related Immunodeficiency
Cerebral atrophy, Hepatic fibrosis, Encephalopathy, Pulmonary artery atresia ORPHA:306550
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Abnormality of the ovary, Kyphosis, Decreased testicular size, Hypogonadism ORPHA:1875
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Scoliosis, Abnormal Z disk morphology, Increased var... OMIM:618654
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Encephalopathy, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyop... OMIM:618815
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Encephalopathy, Hypertrophic cardiomyopathy, Decreased activity of the pyruvate... OMIM:614462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Stroke, Cardiomyopathy, Thrombocytopeni... ORPHA:79312
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... ORPHA:853
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:614932
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Decreased nerve conduction velocity OMIM:608895
Pulmonary Blastoma
Dyspnea, Weight loss ORPHA:64741
Pelizaeus-Merzbacher Disease
Optic atrophy, Cachexia, Scoliosis, Kyphosis, Cerebral cortical atrophy, Abnormality of visual ev... ORPHA:702
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal... ORPHA:2926
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Respiratory distress, Subcutaneou... ORPHA:238459
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Encephalop... ORPHA:26791
Marinesco-Sjogren Syndrome
Cerebellar cortical atrophy, Scoliosis, Rimmed vacuoles, Cerebellar atrophy, Kyphosis, Hypergonad... OMIM:248800
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:610100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
3-Methylglutaconic Aciduria Type 9
Cerebral atrophy, Encephalopathy, Decreased activity of mitochondrial ATP synthase complex ORPHA:505216
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Bradycardia, Respiratory distress, Decreased activity of mitochondrial complex ... OMIM:619272
Hemophilia B
Cephalohematoma, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding... ORPHA:98879
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Encephalopathy, Decreased activity of mitochondrial complex I, Hyperhidrosis, S... 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
Cerebral atrophy, Global brain atrophy, Anemia, Encephalopathy, Atrophy/Degeneration affecting th... OMIM:615838
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy, Respiratory distress, D... ORPHA:50251
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Scoliosis, Decreased motor nerve conduction velocity... OMIM:619026
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Cerebral atrophy, Kyphosis, Camptodactyly, Short stature OMIM:618453
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Abnormal fl... ORPHA:98755
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,... ORPHA:465
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex I, Hyperhidrosis, Hepat... ORPHA:17
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Encephalopathy... OMIM:614654
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Paraparesis, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani... ORPHA:85212
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpus... OMIM:617052
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Lower limb am... ORPHA:99953
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Facial hypotonia OMIM:611087
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Muscular dystrophy, Pontocerebellar atrophy, Reduced left ventricular ejection f... ORPHA:258
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Cachexia, Distal amyotrophy, Scoliosis, Upper-limb joi... ORPHA:300605
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Respiratory distress ORPHA:171703
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Neurodegeneration OMIM:610951
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Distal lower limb muscle weakness, Lower limb amyotrophy, Scoliosis, Hyperlordosis, Scapular wing... OMIM:615290
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Factor X Deficiency
Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh... OMIM:227600
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Encephalopathy, Decreased activity of mitochondrial complex I, Decreased activi... OMIM:615330
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,... ORPHA:169079
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Decreased response to growth hormone stimulation test, Coro... ORPHA:280679
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Brain atrophy, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, Arth... OMIM:214150
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Frontal cortical atrophy, Arthrogryposis multiplex congenita, Parietal cortical at... OMIM:618766
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitation,... ORPHA:99147
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Intellectual Developmental Disorder, Autosomal Dominant 5
Congenital muscular torticollis, Brain atrophy, Epileptic encephalopathy, Torticollis OMIM:612621
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microlissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, ... ORPHA:89844
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture, Respiratory distress OMIM:617977
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypospadias, Decreased circulating antibody level, Intrauterine growt... OMIM:616910
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Mitochondrial Pyruvate Carrier Deficiency
Encephalopathy, Hepatomegaly, Respiratory distress OMIM:614741
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Acute Myelomonocytic Leukemia
Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Distal lower limb muscle weakness, Lower limb amyotrophy, Decreased amplitude of ... ORPHA:99950
Developmental And Epileptic Encephalopathy 45
Epileptic encephalopathy OMIM:617153
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease... ORPHA:859
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Distal amyotrophy, Hepatic steatosis, Foot dorsi... OMIM:618400
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Decreased nerve condu... ORPHA:101085
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Maternal diabetes, Abnormality of skeletal muscle fiber size, Pancreatit... ORPHA:79083
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Nocturnal hypoventilation, Reduced muscle collagen VI, Torti... OMIM:254090
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... ORPHA:79
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, Brain atrophy, T lymphocytopenia, Sim... OMIM:615966
Developmental And Epileptic Encephalopathy 7
Epileptic encephalopathy OMIM:613720
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Encephalopathy, Microvesicular hepatic steatosis, Stroke, Decreased act... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 57
Cerebral atrophy, Epileptic encephalopathy, Decreased activity of mitochondrial complex I, Cardia... OMIM:620167
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia,... OMIM:602450
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:183050
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Cho... OMIM:615512
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Growth delay, Failure to thrive, Intrauterine growth retard... ORPHA:217346
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Isolated Atp Synthase Deficiency
Hepatomegaly, Respiratory distress, Encephalopathy, Cerebellar atrophy, Hypertrophic cardiomyopat... ORPHA:254913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Dyspnea, Upper limb muscle weakness, Abnormal peripheral act... ORPHA:90117
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ... OMIM:609981
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Kyphosis ORPHA:796
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Decreased activity of mitochondrial complex I, Increased mitochondrial number,... OMIM:615578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Paraparesis, Skeletal muscle ... OMIM:105550
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hemolytic anemia, Normochromic anemia OMIM:245900
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Hypomimic face, Jaundice, Hepatomegaly, Astrocytosis, Portal hyperten... ORPHA:309854
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Proximal amyotrophy OMIM:617404
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secret... ORPHA:100083
Crigler-Najjar Syndrome, Type I
Encephalopathy, Jaundice OMIM:218800
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Cach Syndrome
Cerebral atrophy, Pancreatitis, Encephalopathy, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:135
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture... ORPHA:536516
Sialidosis Type 2
Hepatomegaly, Dyspnea, Kyphosis, Short stature, Flexion contracture, Splenomegaly, Skeletal muscl... ORPHA:87876
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Postnatal growth retardation, Hypospadias, Microvesicular hepatic steatosis, Decre... OMIM:610198
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, Paraproteinemia, E... ORPHA:171442
N Syndrome
Abnormality of chromosome stability, Cryptorchidism, Hypospadias, Leukemia OMIM:310465
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Short neck, Dyspnea, Respiratory distress ORPHA:1832
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism, Encephalopathy, Head titubation, Tetralogy of Fallot, Cr... ORPHA:88639
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Epileptic encephalopathy, Joint contracture, Cerebellar atrophy OMIM:618324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Cryptorc... OMIM:613156
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Respiratory distress, Encephalopathy, Cerebellar atrophy, Apnea ORPHA:79097
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Congenital Myopathy 20
Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in mu... OMIM:620310
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Scoliosis, Increased variability in muscle fiber diameter, Skele... OMIM:613204
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebral atrophy, Encephalopathy, Type 2 muscle fiber predominance, Decreased activity of mitocho... OMIM:615471
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis ORPHA:640
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebral atrophy, Scoliosis, Cerebellar atrophy, Kyphosis, Apnea, Patent ductus arteriosus, Crypt... OMIM:619797
Coenzyme Q10 Deficiency, Primary, 9
Encephalopathy, Type 2 muscle fiber predominance, Cerebellar atrophy OMIM:619028
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Leukocy... ORPHA:90065
Spinocerebellar Ataxia 48
Cachexia, Cerebellar atrophy OMIM:618093
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi... ORPHA:906
Pontocerebellar Hypoplasia, Type 4
Infantile encephalopathy, Gliosis, Congenital contracture OMIM:225753
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Encephalopathy ORPHA:1171
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy OMIM:616816
Tularemia
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Increased circulating antibody level, Respi... ORPHA:3392
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal mesentery morphology, Abnormality of the spleen, Abnormal form of the vertebra... ORPHA:93941
Myopathy, Myofibrillar, 7
Spinal rigidity, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion co... OMIM:617114
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Respiratory distress, Facial diplegia, Hypogonadism, Testicular... OMIM:160900
Aminoacylase 1 Deficiency
Cerebral atrophy, Bradycardia, Cerebellar atrophy, Acute encephalopathy, Cerebral cortical atrophy OMIM:609924
Developmental And Epileptic Encephalopathy 107
Epileptic encephalopathy OMIM:620033
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Kyphosis, Short stature ORPHA:85288
Developmental And Epileptic Encephalopathy 97
Epileptic encephalopathy OMIM:619561
Mitochondrial Complex I Deficiency, Nuclear Type 3
Encephalopathy, Hepatomegaly OMIM:618224
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen... OMIM:185070
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Growth delay, Obesity, Diabetes mellitus, EEG a... ORPHA:85282
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Lymphadenopathy, Jaundice, Hepatom... OMIM:214500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:180800
Systemic Primary Carnitine Deficiency
Hepatomegaly, Acute encephalopathy ORPHA:158
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Torticollis, Azoospermia OMIM:613724
Episodic Ataxia, Type 9
Encephalopathy OMIM:618924
Developmental And Epileptic Encephalopathy 62
Epileptic encephalopathy OMIM:617938
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Warburg Micro Syndrome 1
Optic atrophy, Kyphoscoliosis, Cerebral atrophy, External genital hypoplasia, Short stature, Fail... OMIM:600118
Malaria
Thrombocytopenia, Anemia, Respiratory distress ORPHA:673
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Skeletal muscle atrophy, Decreased fertility, Te... ORPHA:481
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Scoliosis, Intrinsic hand muscle atrophy, Decreased amplitude of sensory actio... OMIM:616688
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Decreased sensory nerve conduction velocity, Axonal degeneration, Distal amyotrop... OMIM:214400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Hypogonadism... ORPHA:3363
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Glutamine Deficiency, Congenital
Bradycardia, Encephalopathy, Brain atrophy, Camptodactyly, Apnea, Flexion contracture OMIM:610015
Developmental And Epileptic Encephalopathy 58
Epileptic encephalopathy OMIM:617830
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Decreased sensory nerve conduction velocit... ORPHA:456312
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Decreased mot... OMIM:118220
Congenital Rubella Syndrome
Anemia, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasia/Hypoplasia of the iris ORPHA:290
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Aplasia... ORPHA:33355
Cronkhite-Canada Syndrome
Cachexia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Cerebral atrophy, Jaundice, Hepatomegaly, Periportal fibrosis, Encephalopathy, Decreased activity... OMIM:251880
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Lymphadenitis, Leukocytosis, Apnea, Cerebral hemorrhage, Congenital thrombo... OMIM:618886
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Abnormality of thyroid physiology, Ischemic stroke, Anemia, Pancreatiti... ORPHA:1830
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Cerebral cortical atrophy, Epileptic encephalopathy OMIM:617820
Progressive Myoclonic Epilepsy With Dystonia
Epileptic encephalopathy, Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:352596
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scoliosis, Scapular winging, Congenital contracture, Increased var... OMIM:605637
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Respiratory distress, Anaplastic thyroid carcinoma, Abnormal skeletal muscle mor... ORPHA:142
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal spl... ORPHA:464329
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Wrist flexion contracture, ... ORPHA:800
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Scoliosis, Increased body weight, Short stature, Abnormality ... OMIM:182290
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Cockayne Syndrome Type 3
Hepatomegaly, Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Thenar muscle w... OMIM:270685
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Apnea, Progressive encephalopathy ORPHA:99852
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Cerebral atrophy, Jaundice, Respiratory distress, Megaloblastic anemia, Short stature, Failure to... OMIM:250940
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis, Abnormality of thyroid physiology, Decreased body mass index, Limb hypertonia, Br... ORPHA:59
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Transient neutropenia, Decreased circu... OMIM:619707
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attac... ORPHA:3260
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Encephalopathy OMIM:620461
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Congenital contracture, Arthrogryposis ... ORPHA:352490
Scleromyxedema
Exertional dyspnea, Encephalopathy, Stroke, Abnormal skeletal muscle morphology, Transient ischem... ORPHA:167635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Growth delay, Thrombocyt... ORPHA:289916
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Hypoventilation, Jaundice, Hepatomegaly, Cerebral cortical neurodegeneration, E... OMIM:203700
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Phenylketonuria
Encephalopathy ORPHA:716
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Congestive heart failure, Cirrhosis, Hepatomegaly, Respiratory distre... ORPHA:367
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, EEG with foca... OMIM:617302
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased... OMIM:209950
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Growth delay, Bone... OMIM:620501
Coenzyme Q10 Deficiency, Primary, 7
Epileptic encephalopathy, Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616276
Dihydrolipoamide Dehydrogenase Deficiency
Encephalopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ab... ORPHA:64743
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Respiratory distress, Pulmonary arterial hypertension, Tr... ORPHA:2414
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Epileptic encephalopathy OMIM:615338
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile encephalopathy ORPHA:263410
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Cystic Echinococcosis
Cholestatic liver disease, Abnormality of the diaphragm, Jaundice, Increased circulating antibody... ORPHA:400
Whipple Disease
Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dysfunction, Myositis, Cachexia, Hypo... ORPHA:3452
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... OMIM:242900
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Anemia, Short stature, Increased variability in muscl... OMIM:226670
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Developmental And Epileptic Encephalopathy 15
Epileptic encephalopathy OMIM:615006
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:607831
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Respiratory distress, Flexion contracture, Left ventricular hypertr... OMIM:616733
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Limb muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Foot dors... OMIM:118300
Immunodeficiency 114, Folate-Responsive
Cerebral atrophy, Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Increased cir... OMIM:620603
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type... ORPHA:596
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Respiratory distress, Brai... OMIM:617303
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Hypotension, Thrombocyto... ORPHA:99828
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis OMIM:616756
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Spinal rigidity, Scoliosis, Increased variability in muscle fiber diameter, C... OMIM:617066
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertroph... ORPHA:2348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Mitchell Syndrome
Encephalopathy, Limb muscle weakness OMIM:618960
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive, Polymicrogyria, Left ventricular hypertrophy OMIM:616974
Combined Oxidative Phosphorylation Deficiency 35
Cerebral atrophy, Epileptic encephalopathy, Decreased activity of mitochondrial complex I, Decrea... OMIM:617873
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Arthrogryposis multiplex congenita, Cerebral cortical atrophy, Skeletal muscle atr... OMIM:618291
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss ORPHA:79238
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Respiratory distress, Encephalopathy, Stroke, Cerebral ischemia ORPHA:927
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Brain atrophy, Rimmed vacuoles, Hyperlordosis, EMG: myopathi... ORPHA:52430
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Intramuscular hematoma, Oral cavity blee... ORPHA:324636
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Increased circulating IgE level, Kyphosis, Short... ORPHA:3409
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Aganglionic megacolon, Short neck ORPHA:1438
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis, Decreased nerve conduction velocity, Claw hand deformity, Distal amyotrophy, Abno... OMIM:601455
Mitochondrial Complex I Deficiency, Nuclear Type 33
Encephalopathy, Apnea, Decreased activity of mitochondrial complex I, Neutropenia OMIM:618253
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:243500
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal amyotrophy, Scoliosis, Limb muscle weakness, Intrinsic hand muscle atrophy, Skeletal muscl... OMIM:614895
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cachexia, Short stature ORPHA:1389
Aspergillosis
Stroke, Increased circulating IgE level, Dyspnea, Intracranial hemorrhage, Eosinophilia, Hepatiti... ORPHA:1163
Developmental And Epileptic Encephalopathy 61
Cerebral atrophy, Epileptic encephalopathy, Apnea OMIM:617933
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Failure to thrive, Kyphosis, Facial myokymia OMIM:620007
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Mitochondrial Complex I Deficiency, Nuclear Type 10
Encephalopathy, Apnea, Decreased activity of mitochondrial complex I, Central hypoventilation OMIM:618233
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocrine system, ... ORPHA:79329
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Nocturnal hypoventilation, Calf muscle hypertrophy, Rimmed vacuoles, Scap... OMIM:603689
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Rhizomelia, Hypospadias, Respiratory distress, Decreased circulating IgG lev... OMIM:607143
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Distal lower limb muscle weakness, Decreased sensory nerve conduction velocity, D... OMIM:145900
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis OMIM:618512
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hyperlordosis, Cerebral cortical atrophy, Short stature, Type I diabetes mellitus, Crypto... ORPHA:1192
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Decreased mot... OMIM:118200
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Decreased response to growth hormone stimulation test, Premature coronary ar... OMIM:300845
Microsporidiosis
Adrenocortical abnormality, Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morph... ORPHA:2552
Stxbp1-Related Encephalopathy
Epileptic encephalopathy ORPHA:599373
Acromicric Dysplasia
Ovoid vertebral bodies, Decreased nerve conduction velocity, Severe short stature ORPHA:969
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Myopathy With Lactic Acidosis, Hereditary
Anemia, Decreased activity of mitochondrial complex I, Dyspnea, Decreased activity of mitochondri... OMIM:255125
Glycine Encephalopathy 1
Encephalopathy OMIM:605899
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Exertional dyspnea, Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissectio... ORPHA:91387
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Respiratory distress, Facial diplegia, Camptodactyly,... OMIM:157900
Hemochromatosis, Type 3
Cirrhosis, Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Hepatomegaly, Anemia, Foot joint contracture, Scolio... ORPHA:90321
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Decreased plasma free carnitine, Encephalopathy, Cerebellar atrophy OMIM:616034
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor we... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Axonal d... OMIM:614436
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left ventricular ejecti... OMIM:115197
Developmental And Epileptic Encephalopathy 53
Epileptic encephalopathy OMIM:617389
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Congenital Myopathy 18
Scoliosis, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fi... OMIM:620246
X-Linked Neurodegenerative Syndrome, Bertini Type
Epileptic encephalopathy ORPHA:85334
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, M... OMIM:612626
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Decreased motor nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy OMIM:607250
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, Encephalopathy OMIM:617268
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Increased en... OMIM:602541
Harel-Yoon Syndrome
Developmental cataract, Dystonia, Corneal opacity OMIM:617183
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Respiratory distress, Cardiomyopathy, Thromboc... OMIM:251000
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Scoliosis, Cerebellar atrophy, EEG with focal epileptiform discharges, Inte... ORPHA:544503
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Cerebellar atrophy, Short stature, Absent pubertal growth spurt,... ORPHA:438134
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... ORPHA:464321
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness OMIM:162500
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Sudden episodic apnea, Decreased circulating carnitine concentration, Encephalopath... ORPHA:159
Primary Non-Essential Cutis Verticis Gyrata
Encephalopathy, Gliosis ORPHA:357225
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated... OMIM:255310
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Encephalopathy, Global brain atrophy, Left ventricular hypertrophy OMIM:614458
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Increased variability in muscle fiber diameter, Failure to thrive in infancy, Incr... OMIM:619065
Cataract-Ataxia-Deafness Syndrome
Short stature, Decreased nerve conduction velocity ORPHA:1368
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, External genital hypoplasia, Hepatomegaly, Respiratory distress, Scoliosis, Failur... ORPHA:329178
Typical Nemaline Myopathy
Nocturnal hypoventilation, Spinal rigidity, Scoliosis, Facial diplegia, Facial palsy, Hyperlordos... ORPHA:171436
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Encephalopathy, Stroke-like epis... ORPHA:79095
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Schaaf-Yang Syndrome
Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis, Short stature, Obesity, F... OMIM:615547
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Rimmed vacuoles, Hand mus... OMIM:606070
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Kyphosis,... OMIM:255200
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Cirrhosis, Hepatomegaly, Neuronal loss in central nervous system, Hypertension,... ORPHA:363400
Developmental And Epileptic Encephalopathy 73
Epileptic encephalopathy, Flexion contracture OMIM:618379
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Scoliosis, Increased variability in muscle fiber diameter, Centrally nuc... OMIM:611705
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Hepatomegaly, Severe postna... OMIM:216400
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-... OMIM:609136
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Growth delay, Decr... OMIM:619510
Idiopathic Bronchiectasis
Cachexia, Dyspnea ORPHA:60033
Autosomal Recessive Spastic Paraplegia Type 25
Abnormal lumbar spine morphology, Cervical spondylosis, Abnormality of peripheral nerve conductio... ORPHA:101005
Cockayne Syndrome
Delayed puberty, Cachexia, Cerebellar atrophy, Kyphosis, Severe short stature, Splenomegaly, Opti... ORPHA:191
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Scoliosis, P... ORPHA:254516
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Cachexia, Abnormality of chromosom... ORPHA:647
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Congenital finger flexion ... ORPHA:466768
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Lennox-Gastaut Syndrome
Encephalopathy ORPHA:2382
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Kyphosis, Short stature, Obesity, Foot dorsiflexor we... OMIM:618124
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Nem... OMIM:255320
Dystonia 31
Abnormal posturing OMIM:619565
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Decreased fertility, Testicular atrophy, Limb muscle weakness OMIM:313200
Xfe Progeroid Syndrome
Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Premature ovarian insuffi... OMIM:610965
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Postnatal growth retardation, Decreased response to growth hormo... ORPHA:94065
Hsd10 Disease
Frontotemporal cerebral atrophy, Spastic paraparesis, Nonprogressive encephalopathy ORPHA:391417
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Decreased libido, Infertility, Hepatocellular carc... ORPHA:465508
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Respiratory distress, Nemaline bodies, Joint contractu... OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 9
Encephalopathy, Decreased activity of mitochondrial complex I, Hypoventilation OMIM:618232
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Temple Syndrome
Maturity-onset diabetes of the young, Scoliosis, Decreased testicular size, Precocious puberty, O... OMIM:616222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Respiratory distress, Myocardial necr... OMIM:260400
Dpm1-Cdg
Cerebral atrophy, Muscular dystrophy, Pontocerebellar atrophy, Hepatomegaly, Encephalopathy, Cere... ORPHA:79322
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Abnormal testis morphology, Hypospadias, Kyphosis ORPHA:1548
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Tetrasomy 12P
Short stature, Cachexia, Short neck ORPHA:884
Peho-Like Syndrome
Infantile encephalopathy, Cerebellar atrophy OMIM:617507
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Encephalopathy OMIM:619422
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Encephalopathy, Flexion contracture, Respiratory distress OMIM:618201
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Hurler Syndrome
Abnormal vertebral morphology, Hepatomegaly, Abnormal nerve conduction velocity, Abnormality of t... ORPHA:93473
Raynaud-Claes Syndrome
Cerebral atrophy, Epileptic encephalopathy, Cerebral cortical atrophy OMIM:300114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... OMIM:612937
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Muscular dystrophy, Nocturnal hypoventilation, Facial palsy, Increased variabilit... OMIM:616470
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb muscle weakness, Axonal degeneration, Distal upper limb amyotrophy, Cerebellar ... OMIM:302800
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Diff... OMIM:619279
Fish-Eye Disease
Corneal opacity, Splenomegaly ORPHA:79292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Short stature, Pure red cell ... OMIM:618165
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi... OMIM:613954
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Vertebral segmentation defect, Kyphosis, Severe short stature, EEG abnormality, Crypto... ORPHA:2617
Developmental And Epileptic Encephalopathy 59
Epileptic encephalopathy OMIM:617904
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Filippi Syndrome
Optic atrophy, Postnatal growth retardation, Decreased body weight, Cerebellar atrophy, Intrauter... OMIM:272440
Developmental And Epileptic Encephalopathy 23
Epileptic encephalopathy, Supravalvular aortic stenosis OMIM:615859
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Respiratory distress, Scoliosis, Congenital contracture OMIM:615042
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Secondary amenorrhea, Scoliosis, Facial palsy, EMG: myop... OMIM:258450
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Epileptic encephalopathy, Cerebellar atrophy OMIM:616981
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Hepatocellular carcinoma, Portal hypertension, Hypertrophic cardiomyopathy, ... OMIM:619902
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Epileptic encephalopathy OMIM:617065
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... OMIM:263400
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Adren... ORPHA:251274
Patent Ductus Venosus
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Hepat... OMIM:601466
Carpenter Syndrome
Kyphoscoliosis, External genital hypoplasia, Obesity, Patent ductus arteriosus, Cryptorchidism, A... ORPHA:65759
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Spastic paraparesis, Cerebellar atrophy, Progressive encephalopathy ORPHA:329284
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Type I diabetes mellitus, Flexion contracture, Weight loss ORPHA:1979
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98863
Developmental And Epileptic Encephalopathy 12
Epileptic encephalopathy OMIM:613722
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Hemorrhagic ovarian cyst, Gingival bleeding, Inter... ORPHA:335
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Spinal muscular atrophy, Increased variability in muscle fiber diamet... OMIM:616867
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Hyperhidrosis, Leukopenia, Splenom... ORPHA:99827
Meconium Aspiration Syndrome
Pulmonary insufficiency, Respiratory distress, Encephalopathy, Pulmonary arterial hypertension, A... ORPHA:70588
Kaposi Sarcoma
Venous insufficiency, Encephalopathy, Abnormality of the spleen, Abnormality of the liver, Genera... ORPHA:33276
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Distal lower limb muscle weakness, Claw hand deformity, Decreased compound muscle action potentia... OMIM:620528
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Plantar flexion contracture, Torticollis, Short stature, Growth delay, Episodic tach... ORPHA:2872
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Acute encephalopathy, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goit... ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iih
Encephalopathy, Interface hepatitis, Cerebellar atrophy OMIM:611182
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Infection associated neutropenia, Encephalopathy, Cerebellar atrophy, Cardiomyo... ORPHA:445038
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Abnormality o... ORPHA:600
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:607734
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Limb hypertonia, Hypsarrhythmia, Scoliosis, Pachygyria, Lissencephaly, Cryptorchidism, EEG with b... OMIM:620316
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor ORPHA:98890
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Vertebral segmentation defect, Cerebral cortical atrophy, Short ... ORPHA:1166
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Cholestasis, Camptodactyly, Decreased circulating T4 concentration, Failure... OMIM:608104
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:98754
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Short stature, Hypogonadism, Lissencephaly, Cryptorchidism ORPHA:281090
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Abnormal lymphocyte ... ORPHA:99867
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Encephalopathy, Decreased activity of mitoc... OMIM:610505
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Exertio... OMIM:187300
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Epistax... ORPHA:403
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Respiratory distress, Calf muscle hypertrophy, EMG: myopathi... OMIM:618733
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Fa... OMIM:612782
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Hepatomegaly, Fused cervical vertebrae, Cholelithiasis, Respiratory... ORPHA:83617
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Cerebral atrophy, Global brain atrophy, Decreased activity of mitochondrial respiratory chain, Fa... OMIM:612073
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy, Achill... OMIM:612674
Familial Hyperaldosteronism Type Ii
Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Epistax... ORPHA:404
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Pancytopenia, Encephalopathy, Gliosis, Left ventricular hypertrophy, Tachycardi... OMIM:618321
Wagr Syndrome
Scoliosis, Short stature, Obesity, Displacement of the urethral meatus, Ambiguous genitalia, Cryp... ORPHA:893
Developmental And Epileptic Encephalopathy 31A
Epileptic encephalopathy, Diffuse cerebral atrophy OMIM:616346
Pelger-Huet Anomaly
Giant platelets, Kyphosis, Hyposegmentation of neutrophil nuclei, Lower limb hypertonia, Failure ... OMIM:169400
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia... OMIM:232300
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Postnatal growth retardation, Scoliosis, Camptodactyly, Growth delay, Patent du... OMIM:179613
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Anemia, Concentric hypertrophic cardiomyopath... ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Hypospadias, Intrauterine growth retardation, Cryptorchidism, Small for gestational age OMIM:620135
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus ORPHA:261102
Episodic Ataxia Type 1
Kyphoscoliosis, Respiratory distress, Calf muscle hypertrophy, Scoliosis, Cerebellar atrophy ORPHA:37612
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:98793
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormality of mitochondrial metabolism, Hyper... ORPHA:391428
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Decreased body weight, Small for gestational age, Kyphosis OMIM:618392
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Ragged-red muscle fibers, Secondary amenorrhea, Facial palsy, EM... OMIM:157640
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Macrocytic anemia, Respiratory distress, Short stature, Granuloc... OMIM:606164
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Cerebellar atrophy, Paraparesis, Cerebral cortical atrophy, Skeletal muscle atr... OMIM:615157
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Dilatation o... ORPHA:363705
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Cachexia, Scoliosis, Neoplasm of the adrenal cortex, Short stature, Hashimoto ... ORPHA:109
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Huntington Disease-Like 1
Cerebral cortical atrophy, Gliosis, Cerebellar atrophy, Abnormal posturing ORPHA:157941
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Diaminopentanuria
Neurodegeneration OMIM:222350
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Congenital contracture, Centrall... OMIM:615368
Non-Functioning Paraganglioma
Congestive heart failure, Episodic hyperhidrosis, Hypertension associated with pheochromocytoma, ... ORPHA:94080
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Cardiomyopathy, Decreased plasma total carnitine, Rhabdomyolysis, Arrhythmia, Hepat... ORPHA:228305
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:177904
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Bradypnea, Torticollis, Encephalopathy, Brain atrophy, Abnormal activity of... OMIM:617186
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Dyspnea, Diffuse alveolar hemorrhage, Tachypnea, Shock ORPHA:178320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Anemia, Lumbar kyphosis, Respiratory distress, Brain atrophy, Thoracic kyphosis, B... ORPHA:505248
Avian Influenza
Respiratory distress, Dyspnea, Rhabdomyolysis, Thrombocytopenia, Leukopenia, Lymphopenia, Tachypn... ORPHA:454836
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circulating IgG ... OMIM:614069
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Encephalopathy OMIM:617668
Acquired Methemoglobinemia
Tachycardia, Respiratory distress, Dyspnea, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Isaacs Syndrome
Calf muscle hypertrophy, EEG abnormality, Weight loss ORPHA:84142
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:177901
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Short stature, Failure to thrive, Flexion contracture, Short neck, C... ORPHA:98791
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Increase... OMIM:613157
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Lcat Deficiency
Corneal opacity, Hemolytic anemia ORPHA:650
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Decreased circulating carnitine concentration, Abnormal cardiac ventricular functio... ORPHA:2394
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Right ventricular failure, Right ventricular hypertrophy, Central ... ORPHA:70589
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Retractile testis, Encephalopathy, Atrophy/Degeneration affecting the brainstem, Gliosis, Neurona... OMIM:617193
Familial Acute Necrotizing Encephalopathy
Abnormal pattern of respiration, Choroid hemorrhage, Gliosis, Acute encephalopathy ORPHA:88619
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Pancytopenia, Encephalopathy, Ragged-... OMIM:607426
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, EEG abnormality, Failure to thrive OMIM:614096
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Tel... ORPHA:284227
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Irregular menstruation, Respiratory distress, Kyphosi... OMIM:616482
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... OMIM:620430
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227645
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Abnormal jugular vein morphology, Angina pectoris, Retinal ar... ORPHA:464343
Developmental And Epileptic Encephalopathy 63
Cerebral cortical atrophy, Epileptic encephalopathy OMIM:617976
Combined Oxidative Phosphorylation Deficiency 27
Cerebral atrophy, Global brain atrophy, Microvesicular hepatic steatosis, Epileptic encephalopath... OMIM:616672
Aarskog-Scott Syndrome
Delayed puberty, Scoliosis, Bilateral cryptorchidism, Short stature, Failure to thrive, Short nec... OMIM:305400
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Encephalopathy, Flexion contracture OMIM:616281
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Cerebral atrophy, Postnatal growth retardation, Anemia, Gian... OMIM:611209
3-Methylglutaconic Aciduria, Type Viib
Cerebral atrophy, Rhizomelia, Respiratory distress, Cerebellar atrophy, Growth delay, Thrombocyto... OMIM:616271
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Scoliosis, Infertility, Cerebellar atrophy, Kyphosis, Limb muscle weakness, Low... OMIM:614409
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased nerve conduction velocity, Acute hepatitis, Cerebral cortical atrophy, Fa... OMIM:238970
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Anterior beaking of lumbar vertebrae, Platyspondyly, Hepatomegaly, ... OMIM:253220
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Scoliosis, Kyphosis OMIM:300434
Oculogastrointestinal Muscular Dystrophy
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Developmental And Epileptic Encephalopathy 88
Epileptic encephalopathy OMIM:618959
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Increased circulating antibody level, Abnorma... ORPHA:284
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Severe postnatal growth retardation, Portal h... OMIM:620005
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Urogenital s... ORPHA:2970
Gm1 Gangliosidosis
Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:354
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Obesity, Kyphosis, Short stature ORPHA:276630
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Respiratory distress, Microvesicular hepatic stea... OMIM:615595
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Encephalopathy, Leukocytosis, Bone marrow hyp... ORPHA:829
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Thrombocytopenia, Weight loss, Tachypnea ORPHA:79242
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Kyphosis, Short stature, Skeletal muscle atrophy, Abnormality of the thyroid... ORPHA:1969
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Pulmonary ... ORPHA:624
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test, Severe short stature, R... OMIM:245590
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Impotence, Diabetes mellitus, Spl... OMIM:235200
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Kyph... ORPHA:2232
Pseudo-Torch Syndrome 2
Hepatomegaly, Bradycardia, Petechiae, Thrombocytopenia, Cerebral hemorrhage, Patent ductus arteri... OMIM:617397
Thyroid Lymphoma
Lymphadenopathy, Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyro... ORPHA:97285
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Postnatal growth retardation, Severe failure to thrive, Decrease... OMIM:133540
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Decreased nerve conduction velocity, Cerebellar atrophy OMIM:618356
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Respiratory distress, Scoliosis, Facial palsy, Dyspnea, Kyphosis, Hand... OMIM:211530
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Venous insufficiency, Periph... ORPHA:90308
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Ence... ORPHA:158061
Letterer-Siwe Disease
Jaundice, Anemia, Encephalopathy, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Anemia, Melena, Respiratory distress, Petechiae, Capillary leak, Hypertension, Dyspn... ORPHA:340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Distal lower limb muscle weakness, Distal amyotrophy, Decre... OMIM:618279
Multiple Mitochondrial Dysfunctions Syndrome 6
Atrophy/Degeneration affecting the brainstem, Epileptic encephalopathy, Cerebellar atrophy OMIM:617954
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Epileptic encephalopathy OMIM:618497
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Cachexia, Scoliosis, Growth d... ORPHA:2072
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Brain atrophy, Stroke, Arteriosclerosis of small cerebral arteries, Transient ischemic attack, Pr... OMIM:600142
Trisomy 18
Congenital diaphragmatic hernia, Cachexia, Short stature, Camptodactyly of finger, Growth delay, ... ORPHA:3380
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Hepatomegaly, Polymicrogyria, Cerebellar atrophy, Cholestasi... OMIM:261515
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sidero... OMIM:222300
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg... OMIM:605309
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Torticollis, Jaundice, Pancreatitis, Abnormal... ORPHA:370348
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Myositis, Increased circulating IgA level, Failure to th... OMIM:615934
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Abnormal intervertebral disk morphology, Abnormal f... ORPHA:2311
Odontochondrodysplasia
Respiratory distress, Scoliosis, Short stature, Patent ductus arteriosus, Platyspondyly ORPHA:166272
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Anemia, Respiratory distress, Abnormal macrophage morphology, Car... ORPHA:292
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Encephalopathy, Apnea, Central hypoventilation OMIM:300673
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... ORPHA:139578
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Decreased testicular size, Camptodactyly of toe, Short stature, Skeletal mus... ORPHA:127
Cdkl5-Deficiency Disorder
Scoliosis, Multifocal epileptiform discharges, Kyphosis, Growth delay ORPHA:505652
Oculoskeletodental Syndrome
Hepatomegaly, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Hypothyroidism, Short stat... OMIM:618440
Developmental And Epileptic Encephalopathy 21
Brain atrophy, Epileptic encephalopathy, Limb hypertonia OMIM:615833
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Circulating nucleated red blood cells, Splenome... OMIM:613673
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Spinal rigidity, Increased variability in muscle f... OMIM:617072
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Intrinsic hand muscle atrophy OMIM:304700
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Hepatic necrosis, D... OMIM:231530
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Dyspnea, Hypertrophic cardiomyopathy, Mitochondria... OMIM:618250
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Spinal rigidity, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy,... OMIM:613327
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Jaundice, Anemia, Hepatomegaly, Encephalopathy, Acute pancreatitis, L... ORPHA:20
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Atrophy/Degeneration affecting the brainstem, ... ORPHA:95428
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis, Patent ductus arteriosus OMIM:618658
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hypogonadism, Intrauterine growth retardation, Cryptorchidism ORPHA:85173
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Pulmonary arterial hypertension, Adrenal hyperplasia, Epistaxis, Hyperaldosteronism... ORPHA:369929
Developmental And Epileptic Encephalopathy 101
Bradycardia, Epileptic encephalopathy, Apnea, Limb joint contracture, Third degree atrioventricul... OMIM:619814
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Apnea, Optic disc pallor OMIM:617235
Farber Disease
Anemia, Lymphadenopathy, Respiratory distress, Brain atrophy, Intrahepatic cholestasis with episo... ORPHA:333
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Scoliosis, Kyphosis, Camptodactyly, Flexion contracture of finger, Abnormal ... ORPHA:88628
Smith-Kingsmore Syndrome
Large for gestational age, Rhizomelia, Diastasis recti, Perisylvian polymicrogyria, Thrombocytope... OMIM:616638
Hypophosphatasia, Infantile
Apnea, Anemia, Intracranial hemorrhage OMIM:241500
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Abnormal autonomic nervous system physiology, Growth delay, Abnormal pattern... ORPHA:168593
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Huntington Disease-Like 2
Cerebral cortical atrophy, Weight loss, Caudate atrophy ORPHA:98934
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Failure to thrive... OMIM:617228
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly of toe, Camptodactyl... OMIM:114300
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Decreased sensory nerve conduction velocity, Atrophy/Degeneration affecting the... OMIM:616192
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Postnatal growth retardation, Flexion contracture of toe, Spina bifida occulta, S... OMIM:193700
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Growth delay, Bone marrow hypocellularity, Thrombocytopenia, Testicular ... OMIM:613987
Atrial Septal Defect, Sinus Venosus Type
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Dyspnea, Pulmonary arterial... ORPHA:99105
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Delayed puberty, Increased vertebral height, Abnormal vertebral morphology, Hyper... OMIM:616817
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast... ORPHA:167
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Epileptic encephalopathy, Cerebel... OMIM:613477
Developmental And Epileptic Encephalopathy 91
Cerebral atrophy, Epileptic encephalopathy OMIM:617711
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormally ossified vertebrae, Severe shor... ORPHA:1263
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Encephalopathy, Brain atrophy, Left ventricular hypertrophy, Decreased ... OMIM:619355
Acute Monoblastic/Monocytic Leukemia
Exertional dyspnea, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypoth... ORPHA:514
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Respiratory distress, Supraventricular arrhythmia, Hypert... ORPHA:90068
Developmental And Epileptic Encephalopathy 57
Epileptic encephalopathy OMIM:617771
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Epileptic encephalopathy, Cerebellar atrophy OMIM:617132
Micro Syndrome
Optic atrophy, Delayed puberty, Hypoplasia of penis, Scoliosis, Hypoplastic labia minora, Kyphosi... ORPHA:2510
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Encephalopathy, Brain atrophy, Stroke, Atrophy of the spinal cord, Apnea, Spastic paraparesis, Lo... ORPHA:395
Adrenal Hypoplasia, Congenital
Delayed puberty, Muscular dystrophy, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Leukocytosis, Increased circulating procalcitonin concentration, N... ORPHA:36238
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Kyphosis, Short stature, Papilledema, Hepatosplenomegaly, Flexion contracture, Sple... OMIM:309900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Delayed puberty, Lower limb amyotrophy, Optic nerve hypoplasia, Scoliosis, Cerebel... ORPHA:496790
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Epileptic encephalopathy, Cerebel... OMIM:617493
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Sacral dimple, Anemia, Microphallus, Short... OMIM:603467
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Wieacker-Wolff Syndrome
Cerebral atrophy, Congenital foot contractures, Distal amyotrophy, Hyperlordosis, Facial palsy, S... OMIM:314580
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Dyspnea, Epileptic encephalopathy OMIM:308350
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Abnormality of ... ORPHA:99812
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Neurodegeneration OMIM:615643
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis OMIM:615433
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Respiratory distress, Congenital hypothyroidism, Prolonged neonatal jaundice, Decrea... ORPHA:226313
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Jaundice, Hepatomegaly, Secon... ORPHA:79239
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Scoliosis, Limb muscle weakness, Abnormality of visual evoked p... OMIM:601152
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ... OMIM:606071
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly ORPHA:61
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Scoliosis, Kyphosis... ORPHA:2075
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Hypoplastic labia minora, Kyphosis, Shoulder girdle muscle atrop... ORPHA:64755
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Cerebellar atrophy, Interictal EEG ab... OMIM:301310
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Thoracolumbar scoliosis, Hip contracture, Severe short stature, Knee flexion contractur... OMIM:313420
Lysosomal Acid Lipase Deficiency
Jaundice, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cachexia, Microvesicular hepati... ORPHA:275761
Japanese Encephalitis
Distal lower limb muscle weakness, Increased circulating antibody level, Respiratory distress, In... ORPHA:79139
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Cerebral atrophy, Postnatal growth retardation, Optic nerve hypoplasia, Camptodac... OMIM:612513
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Nocturnal hypoventilation, Calf muscle hypertrophy, Hyperlordosis, Scoliosis,... OMIM:607155
Ataxia-Telangiectasia
Delayed puberty, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Female hy... OMIM:208900
Glycogen Storage Disease Xii
Muscle fiber splitting, Delayed puberty, Normocytic anemia, Jaundice, Anemia, Decreased erythrocy... OMIM:611881
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction ORPHA:280234
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism, Short stature, Failure to thrive, Lymp... OMIM:616395
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Encephalopathy, Brain atrophy, Cerebellar atrophy OMIM:614739
Developmental And Epileptic Encephalopathy 92
Epileptic encephalopathy OMIM:617829
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Short stature, Short neck, Abnorm... ORPHA:2522
Ck Syndrome
Polymicrogyria, Scoliosis, Hyperlordosis, Kyphosis, Slender build, Pachygyria OMIM:300831
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Contracture of the proximal interphalangeal joint of the 5th finger, Moderate in... ORPHA:293967
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Scoliosis, Scapular winging, Facial pa... ORPHA:98915
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Brain atrophy, Scoliosis, Hypoplastic male external genitalia, Short stature, Failure to thrive, ... ORPHA:502434
Developmental And Epileptic Encephalopathy 33
Epileptic encephalopathy OMIM:616409
Developmental And Epileptic Encephalopathy 26
Epileptic encephalopathy OMIM:616056
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Epileptic encephalopathy OMIM:615473
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Brain atrophy, Encephalopathy, Macroglossia OMIM:616900
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Anemia, Macrocytic anemia, Respiratory distress, Morgagni diaphr... OMIM:613309
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Brain atrophy, Encephalopathy, Limb hypertonia ORPHA:442835
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Diabetes mellitus, Primary a... OMIM:610628
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Cerebellar vermis atrophy, Epileptic encephalopathy OMIM:618501
Succinic Acidemia
Respiratory distress OMIM:600335
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy, Weight loss, Dyspnea ORPHA:133
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly, Short stature, Failure to thrive,... ORPHA:412035
Extracranial Carotid Artery Aneurysm
Arteritis, Arteriosclerosis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... ORPHA:494424
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive, Decreased hepatic echogenicity OMIM:613752
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis, Short stature, Intrauterine growth retardation, Arthrogryposis multiplex con... OMIM:615834
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Juvenile Polyposis Of Infancy
Anemia, Freckled genitalia, Cachexia, Short stature, Patent ductus arteriosus, Refractory anemia ORPHA:79076
Spinal muscular atrophy, type I, with congenital bone fractures
Acute infantile spinal muscular atrophy, Respiratory distress, Generalized amyotrophy, Decreased ... OMIM:271225
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Early Myoclonic Encephalopathy
Epileptic encephalopathy ORPHA:1935
Developmental And Epileptic Encephalopathy 27
Epileptic encephalopathy OMIM:616139
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Aicardi-Goutieres Syndrome 9
Optic atrophy, Cerebral atrophy, Hepatomegaly, Anemia, Scoliosis, Acute pancreatitis, Portal hype... OMIM:619487
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Patent ductus arterios... OMIM:612541
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, Scoliosis, Precocious puberty... ORPHA:96184
Birk-Aharoni Syndrome
Failure to thrive, Cryptorchidism, Micropenis, Macrocytic anemia OMIM:620071
Developmental And Epileptic Encephalopathy 43
Epileptic encephalopathy OMIM:617113
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Encephalopathy, Gliosis, Cerebellar atrophy, Cerebral cortical atrophy, Lower limb ... OMIM:301072
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Short stature, Hypergonad... ORPHA:250999
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Lower limb amyotrophy, Scoliosis, Dec... OMIM:610532
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Purpura, Hepatomegaly, Petechiae, Vasculitis, Cardiomyopathy, Hypothyroidism, P... OMIM:225750
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Kyphosis, Hypogonadism, Hypothalamic luteinizing ho... ORPHA:398069
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... ORPHA:199310
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Increased ... ORPHA:79240
Combined Malonic And Methylmalonic Acidemia
Encephalopathy ORPHA:289504
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Axonal degeneration, Intrinsic hand muscle atrophy, Decreased muscle mass, Knee flexion contractu... OMIM:615490
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Global brain atrophy, Hepatomegaly, Hypospadias, Optic nerve hypoplasia, Art... OMIM:301056
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Premature ovarian insufficiency, Scoliosis, Short stature, Lymphopenia ORPHA:391307
Dravet Syndrome
Cerebral atrophy, Epileptic encephalopathy OMIM:607208
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Liss... ORPHA:50810
Emanuel Syndrome
Congenital diaphragmatic hernia, Cerebral atrophy, Sacral dimple, Torticollis, Scoliosis, Kyphosi... OMIM:609029
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Encephalopathy, Gliosis OMIM:608033
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Atelis Syndrome 2
Anemia, Encephalopathy, Dyspnea, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytope... OMIM:620185
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Cerebellar atro... OMIM:616239
Cerebral Visual Impairment
Ischemic stroke, Neurodegeneration, Central nervous system degeneration, Intracranial hemorrhage ORPHA:447788
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hyperhidrosis, Cerebral hemorr... OMIM:171420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Testicular atrophy OMIM:601163
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Developmental And Epileptic Encephalopathy 54
Epileptic encephalopathy OMIM:617391
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... ORPHA:545
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Bicornuate uterus, Short stature, Hypopla... OMIM:601186
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Epileptic encephalopathy OMIM:618374
Diastrophic Dysplasia
Neonatal short-limb short stature, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Ca... ORPHA:628
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Neurodegeneration, Cerebellar atrophy OMIM:615889
Prader-Willi Syndrome
Delayed puberty, Kyphosis, Small scrotum, Intrauterine growth retardation, Adrenal insufficiency,... OMIM:176270
Arthrogryposis, Distal, Type 5
Exertional dyspnea, Firm muscles, Scoliosis, Kyphosis, Congenital finger flexion contractures, Sh... OMIM:108145
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Anemia, Rhizomelia, Severe short-limb dwarfism, Failure to thrive, Weight loss, Pat... ORPHA:1842
Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormal nerve conduction velocity ORPHA:93474
Acute Promyelocytic Leukemia
Exertional dyspnea, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytop... ORPHA:520
Ruvalcaba Syndrome
Delayed puberty, Scoliosis, Kyphosis, Short stature, Cryptorchidism OMIM:180870
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Congenital Myopathy 22A, Classic
Spinal rigidity, Ragged-red muscle fibers, Scoliosis, Scapular winging, Congenital finger flexion... OMIM:620351
Aortic Arch Interruption
Exertional dyspnea, Blood pressure substantially higher in arms than legs, Aortopulmonary window,... ORPHA:2299
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Jaundice, Respiratory distress, Encephalopathy, Megaloblastic anemia, Atrophy o... ORPHA:79282
Developmental And Epileptic Encephalopathy 74
Epileptic encephalopathy OMIM:618396
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abno... ORPHA:169189
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Short stature, Growth delay, Flexion contracture, Skeletal muscle atrophy, Testic... ORPHA:75496
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Hepatomegaly, Scoliosis, Kyphosis, Diabetes mellitus, Joint contracture, Crypt... OMIM:615381
Ethylmalonic Encephalopathy
Encephalopathy, Petechiae ORPHA:51188
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Failure to thrive, He... OMIM:242700
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, Skeletal muscle hypertrophy, Decreased body weight, Cerebell... OMIM:617164
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Short stature, Failure t... ORPHA:47
Bloom Syndrome
Postnatal growth retardation, Hepatic steatosis, Azoospermia, Abnormality of chromosome stability... OMIM:210900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Cerebellar atrophy, Kyphosis, Decreased circulating IgG level, Decreased circulating t... OMIM:300861
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Arthrogryposis ... ORPHA:168572
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Cryptococcosis
Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Respiratory distress, Abnormal cranial nerve... ORPHA:1546
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anemia OMIM:175500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Antenatal intracerebral hemorrhage, Macrovesicular hepatic steatosis, Knee flexion ... OMIM:608836
Cog5-Cdg
Hepatomegaly, Atrophy/Degeneration affecting the brainstem, Brain atrophy, Cerebellar atrophy, Sh... ORPHA:263487
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Increased circulating IgE level, Kyphosis, Short stature, EEG abnormality ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 47
Cerebral atrophy, Scoliosis, Intrauterine growth retardation, Cryptorchidism, Supernumerary nippl... OMIM:617635
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Muscular Dystrophy, Congenital, With Or Without Seizures
Interictal epileptiform activity, Hypoglycosylation of alpha-dystroglycan, Type I diabetes mellit... OMIM:620166
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Kyphosis, Upper limb hypertonia ORPHA:319199
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Short stature, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Cryptorc... OMIM:249270
Encephalopathy, Ethylmalonic
Encephalopathy, Petechiae OMIM:602473
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... ORPHA:79324
Lead Poisoning
Abnormal T cell morphology, Anemia, Encephalopathy, Increased circulating IgE level, Hypertension... ORPHA:330015
Marden-Walker Syndrome
Postnatal growth retardation, Hypospadias, Scoliosis, Camptodactyly, Congenital contracture, Kyph... OMIM:248700
Cowden Syndrome 1
Thyroiditis, Scoliosis, Decreased circulating antibody level, Kyphosis, Hypothyroidism, Varicocel... OMIM:158350
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Senile plaques, Retrocollis, Neuronal loss in central nervous system, Astrocyto... OMIM:601104
Developmental And Epileptic Encephalopathy 48
Cerebral atrophy, Epileptic encephalopathy, Cerebellar atrophy, Limb hypertonia OMIM:617276
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Cerebral atrophy, Epileptic encephalopathy, Encephalopathy OMIM:614388
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Scoliosis, Camptodactyly, Flexion con... OMIM:609033
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... OMIM:610655
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas... OMIM:243700
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Abnormality of the endocrine system, Bifid scrotum, Androgen ins... ORPHA:95706
Developmental And Epileptic Encephalopathy 67
Epileptic encephalopathy, Cerebellar atrophy OMIM:618141
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Proportionate short stature, Left ventricular hypertrophy, Skeletal myopathy, ... ORPHA:3208
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, EEG with polyspike wave compl... ORPHA:98914
Congenital Myasthenic Syndrome
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, EEG with polyspike wave compl... ORPHA:590
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Increased circulating antibody level, Abnorm... ORPHA:2905
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Scoliosis, EMG: myopathic abnormalities, Short stature, Increa... ORPHA:502423
Developmental And Epileptic Encephalopathy 75
Frontal cortical atrophy, Epileptic encephalopathy, Cardiomyopathy, Cerebral cortical atrophy, Pr... OMIM:618437
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis OMIM:151800
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Weight loss, Insulin-resista... ORPHA:411593
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Decreased circulating antibody level, Cerebellar atrophy, Kyphosis ORPHA:85317
Cerebrotendinous Xanthomatosis
Optic atrophy, Tendon xanthomatosis, Global brain atrophy, Decreased nerve conduction velocity, C... ORPHA:909
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Pancytopenia, Respiratory dist... OMIM:251110
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Ethylene Glycol Poisoning
Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval, Encephalopath... ORPHA:31826
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Scoliosis, Kyphosis, Short stature, Slender build, Abnormality of muscle size, ... ORPHA:364028
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Hepatomegaly, Anemia, Exertional dyspnea, Weakness of facial musculature, Respirat... OMIM:220110
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Decreased compound muscle action potential amplitude, Spasticity of fa... OMIM:606353
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Short stature, Chromosome breakage, Cryptorchidism, Small thenar emi... OMIM:613390
Icf Syndrome
Abnormality of neutrophils, Anemia, Abnormality of chromosome stability, Decreased circulating an... ORPHA:2268
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Scoliosis, Cutaneous abscess, Decreased circulating IgG level, L... OMIM:619752
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Respiratory distress OMIM:619466
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Retinal arterial tortuosity, Limb hypertonia, Splenic cyst, Gliosis, Pulmonary arte... OMIM:620371
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Neoplasm of the gallbladder, Spider hemangioma, Cholestasis, Splenome... ORPHA:171
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Anemia, Lymphadenopathy, Abnormal lym... ORPHA:85450
Developmental And Epileptic Encephalopathy 46
Cerebral atrophy, Epileptic encephalopathy, Limb hypertonia OMIM:617162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Congenital Myopathy 9A
Short stature, Obesity, Cryptorchidism, EMG: myopathic abnormalities OMIM:618822
Sulfide:Quinone Oxidoreductase Deficiency
Acute encephalopathy OMIM:619221
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplas... ORPHA:95496
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Muscular edema, Weight loss, Eosinophilia ORPHA:3165
Hepatic Veno-Occlusive Disease
Jaundice, Hepatic encephalopathy, Hepatomegaly ORPHA:890
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal vertebral morphology, Abnormality of chromosome stability, Hypergonadot... OMIM:300514
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Vacuolated lymphocytes, Scoliosis, Kyphosis, Cerebral ... OMIM:230500
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy, Hypogonadism, Cryptorchidism, Small for g... ORPHA:85323
D-Glyceric Aciduria
Cerebral cortical atrophy, Encephalopathy, Bradycardia, Patent ductus arteriosus OMIM:220120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Cerebral atrophy, Postnatal growth retardation, Hypochromic micro... OMIM:301040
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Disproportionate short-limb short statu... OMIM:156530
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Masa Syndrome
Short stature, Hyperlordosis, Kyphosis OMIM:303350
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Asplenia OMIM:612776
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Decreased serum insulin-like growth factor 1, Decreased response... ORPHA:363528
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Scoliosis ORPHA:2058
Acute Liver Failure
Prolonged prothrombin time, Hyperventilation, Gastrointestinal hemorrhage, Abnormal bleeding, Sho... ORPHA:90062
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Carpenter Syndrome 1
Optic atrophy, Cerebral atrophy, External genital hypoplasia, Sacral dimple, Spina bifida occulta... OMIM:201000
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal ... OMIM:619518
Idiopathic Achalasia
Weight loss ORPHA:930
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Epistaxis, ... ORPHA:231625
Scimitar Syndrome
Congestive heart failure, Left superior vena cava draining to coronary sinus, Heart block, Partia... ORPHA:185
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Vascular Hyalinosis
Vascular dilatation, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Abnormality of the endocrine system, Bifid scrotum, Cryptorchidism, Pe... OMIM:264600
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Intercostal retractio... ORPHA:1329
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Growth delay, Dysplastic test... OMIM:608800
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia, Aganglionic megacolon ORPHA:52503
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Respiratory distress, Decreased body weight, Apnea, Thrombocytopenia, Hepat... OMIM:608013
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Chronic hepatic encephalopathy, Splenomegaly, He... OMIM:271500
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Fused cervical vertebrae, Respiratory distress, Neutrophilia, Splenomegaly, Failure... OMIM:612852
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Lymphadenopathy, Weight loss, Respiratory distress ORPHA:411703
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, ... OMIM:606593
Sandifer Syndrome
Abnormal posturing, Hematemesis, Anemia, Torticollis ORPHA:71272
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Q Fever
Myocarditis, Abnormal vascular morphology, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Increa... ORPHA:781
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal ... ORPHA:397590
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Gracile Bone Dysplasia
Asplenia, Short stature, Failure to thrive, Hypoplastic spleen, Micropenis OMIM:602361
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular... OMIM:620080
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Developmental And Epileptic Encephalopathy 112
Cerebral atrophy, Epileptic encephalopathy, Macroglossia OMIM:620537
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Defi... OMIM:227650
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, T lymphocytopenia, Lymphopenia, Hypereosinophilia, Decreased lymphocyte proliferation i... ORPHA:508533
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Encephalopathy, Hepatomegaly, Dyspnea OMIM:615182
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Respiratory distress, Gliosis, Hepatic periportal necrosis, Electron tran... OMIM:231680
Warburg Micro Syndrome 2
Optic atrophy, Postnatal growth retardation, Global brain atrophy, Undetectable visual evoked pot... OMIM:614225
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Failure to thrive, Respiratory distress ORPHA:261304
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:600901
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Ente... OMIM:300755
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscl... ORPHA:401768
Harrod Syndrome
Hypospadias, Scoliosis, Kyphosis, Cerebral cortical atrophy, Failure to thrive, Intrauterine grow... ORPHA:2115
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Paraparesis, Thrombocytope... ORPHA:27
Seckel Syndrome 1
Postnatal growth retardation, Clitoral hypertrophy, Hypospadias, Pancytopenia, Scoliosis, Elbow f... OMIM:210600
Odontochondrodysplasia 1
Biconvex vertebral bodies, Mesomelic short stature, Respiratory distress, Scoliosis, Short statur... OMIM:184260
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased sensory nerve conduction velocity, Cerebellar vermis atrophy, Scoliosis, Distal amyotro... OMIM:270550
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Cerebellar atrophy, Bone marrow hypocellularity, Intrauterine gr... OMIM:620133
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Atypical Rett Syndrome
Sudden episodic apnea, Scoliosis, Abnormal autonomic nervous system physiology, Kyphosis, Growth ... ORPHA:3095
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Pancytopenia, Respiratory dist... OMIM:251100
Diaphanospondylodysostosis
Lumbosacral meningocele, Abnormal liver lobulation, Respiratory distress, Polymicrogyria, Absent ... OMIM:608022
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Clitoral hypertrophy, Respiratory distress, Dyspnea, Growth delay, Failure to thrive ORPHA:2707
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Hepatomegaly, Respiratory distress, Shoulder flexion contracture, Hypoplasia of ... OMIM:620369
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Scoliosis, U... ORPHA:1772
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity DECIPHER:29
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypospadias, Short stature, Growth delay, Obesity, Weight loss, ... ORPHA:251071
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Cerebral cortical atrophy, Neurodege... OMIM:617672
Noonan Syndrome 8
Large for gestational age, Patent ductus arteriosus, Short stature, Failure to thrive, Left ventr... OMIM:615355
Clark-Baraitser syndrome
Scoliosis, Obesity, Macroorchidism, Kyphosis OMIM:300602
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Dystonia-Aphonia Syndrome
Cerebral atrophy, Abnormal mitochondrial shape, Macroglossia, Cerebellar atrophy ORPHA:412217
Multifocal Motor Neuropathy
Weakness of long finger extensor muscles, Motor conduction block, Limb muscle weakness ORPHA:641
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Distal amyotrophy, Kyphosis, Congenital foot contractures ORPHA:3454
8P11.2 Deletion Syndrome
Sacral dimple, Azoospermia, Hypoplasia of penis, Spherocytosis, Abnormality of the hypothalamus-p... ORPHA:251066
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Tyrosinemia Type 2
Tremor, Corneal opacity ORPHA:28378
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Scoliosis, Kyphosis, Short stature, Obesity, Absent pubertal growth spurt, Pube... ORPHA:464282
Developmental And Epileptic Encephalopathy 66
Epileptic encephalopathy, Cryptorchidism, Anemia, Neutropenia OMIM:618067
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Skeletal ... OMIM:162400
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity OMIM:249900
Spinocerebellar Ataxia With Epilepsy
Myopathy, Progressive encephalopathy ORPHA:254881
Developmental And Epileptic Encephalopathy 65
Cerebral atrophy, Epileptic encephalopathy, Cerebellar atrophy OMIM:618008
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Acute encephalopathy OMIM:614849
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb muscle weakness, Peroneal muscle weakness, Tibialis anterior muscle atrophy, De... ORPHA:101076
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Slender build, Weight loss OMIM:603041
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Dysgyria, Brain atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Limb joi... OMIM:620327
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Respiratory distress, Petechiae,... ORPHA:2330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Respiratory distress, Stroke, Transient ischemic attack, Reticulocytosis, Prolonged neo... OMIM:274150
Eisenmenger Syndrome
Exertional dyspnea, Aortopulmonary window, Left-to-right shunt, Heart murmur, Abnormal bleeding, ... ORPHA:97214
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Basal Ganglia Disease, Biotin-Thiamine Responsive
Encephalopathy, Truncal titubation, Facial palsy, Paraparesis OMIM:607483
19P13.12 Microdeletion Syndrome
Hypospadias, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Precocious puberty, Hypothy... ORPHA:254346
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis OMIM:615761
Developmental And Epileptic Encephalopathy 96
Epileptic encephalopathy OMIM:619340
D-2-Hydroxyglutaric Aciduria 1
Infantile encephalopathy, Apnea, Cardiomyopathy, Aortic regurgitation OMIM:600721
Encephalitis Lethargica
Increased circulating antibody level, Bradycardia, Encephalopathy, Upper limb muscle weakness, Hy... ORPHA:83600
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Dyspnea, Leukocytosis, Weight loss, Hypereosinophilia ORPHA:2902
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Hepatomegaly, Epileptic encephalopathy, Cerebellar atroph... OMIM:608776
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Patent ductus arteriosus, ... ORPHA:2519
Vici Syndrome
Postnatal growth retardation, Cutaneous anergy, Gray matter heterotopia, T lymphocytopenia, Left ... OMIM:242840
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Cockayne Syndrome Type 2
Hepatomegaly, Limb hypertonia, Scoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Intraute... ORPHA:90322
Developmental And Epileptic Encephalopathy 42
Epileptic encephalopathy, Flexion contracture OMIM:617106
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Epileptic encephalopathy OMIM:226750
Hurler Syndrome
Hepatomegaly, Kyphosis, Biconcave vertebral bodies, Short neck, Short stature, Hypoplasia of the ... OMIM:607014
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Cerebellar atrophy, Kyphosi... ORPHA:324737
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Coccidioidomycosis
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Pancreatitis, ... ORPHA:228123
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Respiratory distress, Fulminant hepatitis, Leukocytosis, Hypot... ORPHA:319213
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Cerebellar atrophy OMIM:617915
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Proportionate short stature, Obesity, Patent ductus arteriosus, Cryptorchidism, N... ORPHA:404443
Nipah Virus Disease
Hypotension, Respiratory distress ORPHA:99825
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ... ORPHA:1354
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Prolonged QT interval, Hepatomegaly, Respiratory distress, Tachypnea, Ventricular fibri... ORPHA:26793
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Distal amyotrophy, Atr... OMIM:602433
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Acquired Hypertrichosis Lanuginosa
Macroglossia, Ovarian neoplasm, Lymphadenopathy, Weight loss ORPHA:2221
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Encephalopathy, Apnea ORPHA:137754
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Chronic Pneumonitis Of Infancy
Mediastinal lymphadenopathy, Intercostal retractions, Respiratory distress, Failure to thrive, Ta... ORPHA:91359
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Epileptic encephalopathy OMIM:617831
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Oculopharyngodistal Myopathy 1
Respiratory distress, Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic... OMIM:164310
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... OMIM:614732
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Cerebellar atrophy, Growth de... ORPHA:485421
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Spinal rigidity, Scoliosis, Thoracic kyphosis, Congenital finger flexi... OMIM:620545
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Developmental And Epileptic Encephalopathy 51
Epileptic encephalopathy, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy,... OMIM:617339
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Platyspondyly, Intrauterin... OMIM:234250
Proteus Syndrome
Ovarian neoplasm, Long penis, Testicular neoplasm, Cachexia, Scoliosis, Abnormal form of the vert... ORPHA:744
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Short stature, Hypogonadism OMIM:610651
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Cerebral cortical atrophy, Camptodactyly of finger, Growth delay, Flex... ORPHA:1194
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Scoliosis, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Kyphosis OMIM:610743
Kniest Dysplasia
Rhizomelia, Respiratory distress, Hip contracture, Coronal cleft vertebrae, Lumbar kyphoscoliosis... OMIM:156550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splen... OMIM:618641
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneration, Cerebellar atrophy OMIM:612319
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Meier-Gorlin Syndrome 1
Breast hypoplasia, Clitoral hypertrophy, Joint contracture of the hand, Respiratory distress, Hyp... OMIM:224690
Adrenoleukodystrophy
Impotence, Primary adrenal insufficiency, Hypogonadism, Neurodegeneration, Lower limb muscle weak... OMIM:300100
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Encephalopathy OMIM:618890
Spinocerebellar Ataxia 1
Optic atrophy, Decreased sensory nerve conduction velocity, Spinocerebellar atrophy, Distal amyot... OMIM:164400
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Eunuchoid habitus, Torticollis, Respiratory distress ORPHA:98805
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Hepatomegaly, Respiratory distress, Scoliosis, Flexion contracture OMIM:619383
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis, Reticulocytosis, Increased variabili... OMIM:232800
Menkes Disease
Intracranial hemorrhage OMIM:309400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebral atrophy, Ankle flexion contracture, Knee flexion contracture, Scoliosis, Elbow flexion c... OMIM:619461
Parkes Weber Syndrome
Abnormal bleeding, Spinal arteriovenous malformation, Arteriovenous malformation, Venous malforma... ORPHA:90307
Nelson Syndrome
Adrenocorticotropic hormone excess, Anterior hypopituitarism, Testicular neoplasm, Secondary hype... ORPHA:199244
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Truncal obesity, Kyphosis ORPHA:2429
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Bacterial Toxic-Shock Syndrome
Myocarditis, Respiratory distress, Capillary leak, Myositis, Increased circulating myelocyte coun... ORPHA:36234
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Hypoplasia of penis, Breast aplasia, Respiratory d... ORPHA:2554
Stt3A-Cdg
Cerebellar atrophy, Failure to thrive, Small scrotum, Cryptorchidism, Micropenis ORPHA:370921
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Schilder Disease
Encephalopathy ORPHA:59298
Recurrent Respiratory Papillomatosis
Syncope, Tachypnea, Dyspnea, Respiratory distress ORPHA:60032
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Weight loss ORPHA:391
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Decreased circulating carnitine concentration, Encephalopathy, Cardiac arrest OMIM:246450
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Scoliosis, Facial palsy, Kyphosis, Apnea, Skeletal muscle atrophy, Arthrogryposi... OMIM:617143
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Anemia, Jaundice, Hepatomegaly, Bradycardia, Petechiae, Dyspnea, Leuk... ORPHA:90051
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Panhypogamma... OMIM:307200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Episodic hyperhidrosis, Adrenal pheochromocytoma, Hypertension associat... ORPHA:276621
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Hypospadias, ... OMIM:619334
Ruvalcaba Syndrome
Delayed puberty, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Abnormality of vis... ORPHA:3121
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Encephalopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Hydrocele testis OMIM:618810
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Decreased testicular siz... ORPHA:85284
Noonan Syndrome 14
Scapular winging, Kyphosis, Short stature, Lymphopenia, Short neck, Cryptorchidism OMIM:619745
Reni Syndrome
Hypothyroidism, Hypogonadism, Lymphopenia, Cryptorchidism, Micropenis, Adrenal insufficiency OMIM:617575
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Tachypnea, Foam cells, Respiratory distress ORPHA:264675
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyr... ORPHA:739
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Short stature, Splenomegaly, Abnormality of peripheral nerve conduction ORPHA:585
Hyperprolinemia Type 2
Encephalopathy ORPHA:79101
Myopathy, Mitochondrial, And Ataxia
Scoliosis, Distal amyotrophy, Short stature, Increased variability in muscle fiber diameter, Grow... OMIM:617675
Developmental And Epileptic Encephalopathy 13
Cerebral atrophy, Epileptic encephalopathy OMIM:614558
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Scoliosis, Kyphosis, Camptodactyly of finger, Cryptorchidism, Micropenis, L... OMIM:619951
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly of fing... ORPHA:994
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Developmental And Epileptic Encephalopathy 55
Epileptic encephalopathy, Flexion contracture, Limb hypertonia OMIM:617599
Hypomelanosis Of Ito
Cerebral atrophy, Scoliosis, Gray matter heterotopia, Kyphosis OMIM:300337
Charcot-Marie-Tooth Disease Type 1E
Distal lower limb muscle weakness, Peroneal muscle weakness, Decreased nerve conduction velocity,... ORPHA:90658
Colchicine Poisoning
Myocarditis, Congestive heart failure, Respiratory distress, Hypotension, Leukocytosis, Hypovolem... ORPHA:31824
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Brain atrophy, Failure to thrive, Patent ductus arteriosus, Intrauterine growth re... OMIM:612938
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Trisomy 13
Optic atrophy, Scoliosis, Kyphosis, Displacement of the urethral meatus, Patent ductus arteriosus... ORPHA:3378
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Left ventricular hypertrophy, Heart murmur, Thoracic aortic aneurysm, Lower l... ORPHA:365
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Truncal obesity, Disproportionate short-limb short stature, Cerebellar vermis atrophy, Hy... OMIM:616541
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Encephalopathy, Hypertension, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial AT... OMIM:614052
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Brain atrophy, Epileptic encephalopathy OMIM:609304
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Kyphosis, Lef... OMIM:619040
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Profound static encephalopathy OMIM:600176
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Cerebellar atrophy, Progressive encephalopathy, Decreased circulating carnitine con... ORPHA:431361
Kapur-Toriello Syndrome
Hypoplastic labia majora, Polymicrogyria, Scoliosis, Camptodactyly of finger, Pachygyria, Patent ... OMIM:244300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Panhypogammaglo... ORPHA:79124
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Optic atrophy, Scoliosis, Decreased circulating antibody level, Elbow... ORPHA:3132
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Failure to thrive in infancy, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsif... ORPHA:477817
Tetrasomy 5P
Postnatal growth retardation, Respiratory distress, Failure to thrive, Aplasia/Hypoplasia of the ... ORPHA:3309
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Cerebellar vermis atrophy, Scoliosis, Cerebellar atrophy, Kyphosis, Caudate atr... OMIM:617435
Laryngomalacia
Respiratory distress OMIM:150280
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a... ORPHA:90003
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle weakness, S... ORPHA:2912
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Athetosis, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2719
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... ORPHA:2635
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Short stature ORPHA:2786
Isolated Complex I Deficiency
Hepatomegaly, Encephalopathy, Decreased activity of mitochondrial complex I, Abnormal mitochondri... ORPHA:2609
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Epileptic encephalopathy, Increased variability in muscle fiber diameter, Apnea, Right ventricula... OMIM:612949
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress ORPHA:2140
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Respiratory d... ORPHA:177907
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Hypoventilation, Distal amyotrophy, Scoliosis, Cerebellar atrophy, Failure to thri... ORPHA:99949
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Scoliosis, Dyspnea, Kyphosis, Arthrogryposis multiplex congenita... ORPHA:2215
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress, Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Abno... ORPHA:1555
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis, Short stature, Failure to thrive, Overweight, Flexion contracture, Hypogonad... ORPHA:500055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged QT interva... ORPHA:71212
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger, Thenar muscle atrophy,... OMIM:607015
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Myositis, Failure to... OMIM:617591
Spongiform Encephalopathy With Neuropsychiatric Features
Encephalopathy, Gliosis OMIM:606688
Glycine Encephalopathy With Normal Serum Glycine
Encephalopathy, Elbow flexion contracture, Hip contracture, Apnea, Flexion contracture, Arthrogry... OMIM:617301
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Neonatal short-trunk short stature, Scoliosis, Kyphosis, Atlantoaxial insta... OMIM:183900
Pyridoxal Phosphate-Responsive Seizures
Global brain atrophy, Epileptic encephalopathy, Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Neuroleptic Malignant Syndrome
Pulmonary embolism, Bradycardia, Encephalopathy, Hypertension, Leukocytosis, Hypertensive crisis,... ORPHA:94093
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Kyphosis, Short stature, Short neck, Cryptorchidism ORPHA:3082
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Al Amyloidosis
Abnormal salivary gland morphology, Anemia, Increased circulating antibody level, Hepatomegaly, H... ORPHA:85443
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Elevated circulati... OMIM:101800
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, Premature ovarian insufficie... OMIM:251260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Respiratory distress, Patent ductus arteriosus, Short neck, Cryptorchidism OMIM:217980
Renal Nutcracker Syndrome
Anemia, Orthostatic hypotension, Infertility, Dyspareunia, Abnormal autonomic nervous system phys... ORPHA:71273
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Facial palsy OMIM:608804
Hatipoglu Immunodeficiency Syndrome
Anemia, Hypospadias, Pancytopenia, Hemivertebrae, Proportionate short stature, Failure to thrive,... OMIM:620331
Osteoglosphonic Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Scoliosis, Severe short stature, Failure to th... ORPHA:2645
Hydroxykynureninuria
Encephalopathy, Hypotension, Tachycardia ORPHA:79155
Omodysplasia 2
Hypospadias, Labial hypoplasia, Scoliosis, Dyspareunia, Rhizomelic arm shortening, Clitoral hypop... OMIM:164745
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Angina pectoris, Vacuolated lymphocy... ORPHA:565612
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Rhizomelia, Respiratory distress, Wafer-thin platyspondyly, Ov... OMIM:151210
Neuroblastoma
Anemia, Lymphadenopathy, Respiratory distress, Thrombocytopenia, Weight loss, Elevated circulatin... ORPHA:635
Zimmermann-Laband Syndrome 2
Short stature, Short neck, Macroglossia, Kyphosis OMIM:616455
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Dyspnea, Abnormal form of the vertebral bodies ORPHA:2759
Wieacker-Wolff Syndrome, Female-Restricted
Brain atrophy, Scoliosis, Facial palsy, Kyphosis, Short stature, Hip contracture, Achilles tendon... OMIM:301041
Familial Nasal Acilia
Dyspnea, Abnormal respiratory motile cilium morphology, Respiratory distress ORPHA:922
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Thoracic s... OMIM:617022
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Abnormal capillary physiology, Respiratory distress ORPHA:100057
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Scoliosis, Vertebral segmentation defect, Gray matter heterotopia, ... ORPHA:531151
Pneumocystosis
Exertional dyspnea, Increased circulating antibody level, Abnormal neutrophil count, Dyspnea, Wei... ORPHA:723
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Respiratory distress, Dyspnea, Tachycardia, Intermittent hyperventilation, Apneic e... ORPHA:348
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Mild sh... OMIM:130060
Mucopolysaccharidosis Type 6
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Splenomegaly, Disproportionate short-trunk s... ORPHA:583
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Distal Triplication 15Q
Large for gestational age, Abnormal external genitalia, Scoliosis, Camptodactyly, Kyphosis, Flexi... ORPHA:314588
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Cryptorchidism, S... ORPHA:3376
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Encephalopathy, Apnea, Cerebellar atrophy, Limb hypertonia OMIM:619580
Developmental And Epileptic Encephalopathy 41
Cerebral atrophy, Epileptic encephalopathy, Flexion contracture OMIM:617105
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Developmental Delay And Seizures With Or Without Movement Abnormalities
Epileptic encephalopathy OMIM:617836
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal amyotrophy, Atrophy of the spinal cord, Decreas... OMIM:256840
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tachypnea, Respiratory distress OMIM:263000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Cervical instability, Decreased ci... OMIM:617425
Stankiewicz-Isidor Syndrome
Sacral dimple, Hypospadias, Abnormal optic disc morphology, Patent ductus arteriosus, Shawl scrot... OMIM:617516
Chromosome 18P Deletion Syndrome
Hypomimic face, Gonadal dysgenesis, Decreased testicular size, Short stature, Short neck, Cryptor... OMIM:146390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Scoliosis, Decreased body weight, Kyphosis, Decreased hemoglobin concentration, Thr... OMIM:619005
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Encepha... ORPHA:158048
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, Iris coloboma ORPHA:139471
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatomegaly, Cerebellar atrophy, Kyphosis, Hypergonadotropic hy... OMIM:212065
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Hypospadias, Scoliosis, Camptodactyly, Kyphosis, Short stature, ... OMIM:617602
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Hypoplasia of penis, Exocrine pancreatic insufficiency, Pachygyria, Patent... ORPHA:452
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Hypoplasia of penis, Kyphosis, Hypogonadism, Small scrotum, Short neck ORPHA:2983
Autosomal Recessive Multiple Pterygium Syndrome
Absence of labia majora, Spina bifida occulta, Hypoplasia of penis, Scoliosis, Vertebral segmenta... ORPHA:2990
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Epileptic encephalopathy, Cerebellar atrophy OMIM:618012
Listeriosis
Myocarditis, Congestive heart failure, Liver abscess, Jaundice, Arteritis, Respiratory distress, ... ORPHA:533
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgi... OMIM:620300
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Respiratory distress, Pulmonary arterial hypertension, Asplenia, Aortic valve s... ORPHA:210122
Fumarase Deficiency
Cerebral atrophy, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Polycythemia, ... OMIM:606812
Landau-Kleffner Syndrome
Epileptic encephalopathy ORPHA:98818
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Bilateral cryptorchidism, Kyphosis, Sho... ORPHA:3042
Tetanus
Respiratory distress, Bradycardia, Hypertension, Tachycardia, Tachypnea ORPHA:3299
3M Syndrome
Increased vertebral height, Hypospadias, Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Sh... ORPHA:2616
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Hypotension, Int... ORPHA:244242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, EEG abnormality, Kyphosis, Limb hypertonia ORPHA:500180
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cerebral atrophy, Hepatomegaly, Apnea, Hepatic encephalopathy, Hepatic steatosis, Increased hepat... OMIM:261680
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Hypospadias, Scoliosis, Birth length less than 3rd percentile, Kyphosi... ORPHA:464311
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation, Parapare... ORPHA:53721
Ocular Cystinosis
Corneal crystals ORPHA:411641
Caudal Duplication
Abnormal sacrum morphology, Vertebral segmentation defect, Bifid sacrum, Cryptorchidism, Uterus d... ORPHA:1756
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Gray matter heterotopia, Kyphosis, Short stature, Fa... OMIM:610443
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Hypospadias, Bifid scrotum, Intrauterine growth retardation, Short ... OMIM:257300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Skeletal muscle hypertrophy, Scoliosis, Camptodactyly, Kyphosis, Camptodactyly of... OMIM:300280
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Abnormal cortical gyration, Hypoplasia of penis, Polymicrogyri... ORPHA:899
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage OMIM:614424
Rubinstein-Taybi Syndrome 1
Premature thelarche, EEG abnormality, Hepatic hemangioma, Hypospadias, Accessory spleen, Scoliosi... OMIM:180849
Dpagt1-Cdg
Global brain atrophy, Hepatomegaly, Prolonged QT interval, Anemia, Epileptic encephalopathy, Camp... ORPHA:86309
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Increased circulating antibody level, Bradycardia, Reticulocytosis, P... ORPHA:99826
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449400
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibod... OMIM:616084
Peho Syndrome
Infantile encephalopathy, Neuronal loss in central nervous system, Cerebellar atrophy OMIM:260565
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Atrophy/Dege... ORPHA:247245
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Defi... OMIM:227646
Huntington Disease
Cerebral atrophy, Decreased body mass index, Degeneration of the striatum, Weight loss, Abnormal ... ORPHA:399
Developmental And Epileptic Encephalopathy 32
Epileptic encephalopathy OMIM:616366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Pheochromocytoma
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Renal artery stenosis, Hyperhi... OMIM:171300
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, Respiratory distress, ST segment elevation, Cardiomyopathy... OMIM:261740
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Scoliosis, Hemivertebrae,... ORPHA:2916
Baralle-Macken Syndrome
Obesity, Global brain atrophy, Kyphosis OMIM:619255
Developmental And Epileptic Encephalopathy 18
Epileptic encephalopathy, Aortic regurgitation OMIM:615476
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Osteoglophonic Dysplasia
Rhizomelia, Hypospadias, Respiratory distress, Growth delay, Camptodactyly of finger, Chordee, Fa... OMIM:166250
Diffuse Alveolar Hemorrhage
Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss ORPHA:90060
Seckel Syndrome
Intrauterine growth retardation, Cachexia, Scoliosis, Short stature ORPHA:808
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormality of the pancreas, Hyp... ORPHA:887
Citrullinemia Type I
Tachypnea, Torticollis, Hepatic encephalopathy ORPHA:247525
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Weismann-Netter Syndrome
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Severe short stature, Abnorma... ORPHA:3344
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Cohen Syndrome
Optic atrophy, Delayed puberty, Scoliosis, Kyphosis, Short stature, Obesity, Intrauterine growth ... ORPHA:193
Fanconi Anemia
Leukopenia, Hypogonadism, Intrauterine growth retardation, Aganglionic megacolon, Hypospadias, Az... ORPHA:84
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Scoliosis, Facial palsy, Kyphosis, Decreased testicular si... ORPHA:261349
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Respiratory distress, Microv... OMIM:256810
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Central hypothyroidism, Hypothyroi... ORPHA:1667
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Encephalopathy, Decreased activity of mitochondrial complex III OMIM:615453
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Kleefstra Syndrome 2
Growth delay, Scoliosis, Kyphosis OMIM:617768
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Brucellosis
Granuloma, Leukopenia, Splenomegaly, Abnormality of the peripheral nervous system, Increased circ... ORPHA:1304
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Rectovaginal fistula, Polymicrogyria, Lymphopenia, Cerebellar atrophy, Kyphosis, K... OMIM:619708
Developmental And Epileptic Encephalopathy 19
Epileptic encephalopathy OMIM:615744
Sanjad-Sakati Syndrome
Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of pe... ORPHA:2323
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased pyruvate carboxylase activi... OMIM:229300
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Jaundice, Cardiomyopathy, Hepatic encephalopathy OMIM:616483
Norrie Disease
Optic atrophy, Delayed puberty, Erectile dysfunction, Cachexia, Scoliosis, Cryptorchidism, Cerebr... ORPHA:649
Arthrogryposis, Distal, Type 4
Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Lumbar scolios... OMIM:609128
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Nasal flaring, Tachycardia, Tachypnea ORPHA:70587
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Aganglionic megacolon, Anemia, Hypoplasia of penis, Male pseudohermaphroditism, Ce... ORPHA:847
Attrv30M Amyloidosis
Impotence, Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Schinzel-Giedion Syndrome
Kyphoscoliosis, Annular pancreas, Aganglionic megacolon, Hypospadias, Respiratory distress, Hypsa... ORPHA:798
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Iron deficiency anemia, Macrocytic anemia, Thyroid... OMIM:212750
3C Syndrome
Optic atrophy, Postnatal growth retardation, Hypospadias, Hypoplasia of penis, Scoliosis, Hemiver... ORPHA:7
Lateral Meningocele Syndrome
Scoliosis, Kyphosis, Biconcave vertebral bodies, Short stature, Decreased muscle mass, Patent duc... OMIM:130720
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Diffuse cerebral atrophy, Cerebellar atrophy ORPHA:543470
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly, Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Toxic Epidermal Necrolysis
Anemia, Pancreatitis, Abnormal vagina morphology, Respiratory distress, Thrombocytopenia, Weight ... ORPHA:537
Developmental And Epileptic Encephalopathy 52
Epileptic encephalopathy OMIM:617350
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Orthostatic hypotension, ... ORPHA:199299
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Respiratory distress, Left ventricular outflow tract obstruction, Low-output conges... ORPHA:308552
Stickler Syndrome
Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis, Short st... ORPHA:828
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory distress OMIM:617895
Hereditary Sensory And Autonomic Neuropathy Type 1
Distal amyotrophy, Decreased amplitude of sensory action potentials, Foot dorsiflexor weakness, A... ORPHA:36386
Riddle Syndrome
Intraventricular hemorrhage, Chromosomal breakage induced by ionizing radiation, Conjunctival tel... ORPHA:420741
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebral atrophy, Limb hypertonia, Respiratory distress, Glandular hypospadias, Cerebellar atrophy OMIM:620306
Developmental And Epileptic Encephalopathy 94
Epileptic encephalopathy OMIM:615369
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:93399
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Torticollis, Facial palsy, Cerebellar atrophy, Multiple joint contractures OMIM:128100
Developmental And Epileptic Encephalopathy 24
Epileptic encephalopathy OMIM:615871
Thanatophoric Dysplasia
Patent ductus arteriosus, Disproportionate short-limb short stature, Gray matter heterotopia, Kyp... ORPHA:2655
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... ORPHA:456328
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Pituitary hypothyroidism, Panhypopituitarism,... ORPHA:91350
Combined Oxidative Phosphorylation Deficiency 4
Encephalopathy, Hepatomegaly OMIM:610678
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Postnatal growth retardation, Congenital kyphoscolio... ORPHA:536467
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Episodic hyperhidrosis, Adrenal pheochromocytoma, Hypertension associat... ORPHA:29072
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Congenital diaphragmatic hernia, Clitoral hypertrophy, Sacral dimple, Hypospadias, Ab... ORPHA:2556
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Short stature, Growth delay, Cryptorchidism, Chromosomal breakage induced b... OMIM:613951
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Aganglionic megacolon, Impaired lymphocyte transformation with... OMIM:250250
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Lymphocytosis, Thyroiditis, Dyspnea, Weight loss, Eosinophilia, Hepatitis ORPHA:139402
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Sho... OMIM:259450
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity, Hepatosplenomegaly ORPHA:93400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lympha... ORPHA:1655
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Leukopenia, Fasting hyperinsulinemia, Hyperinsulinemia,... ORPHA:2298
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Epileptic encephalopathy, Infantile encephalopathy OMIM:612164
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Cerebral atrophy, Perianal abscess, Defective T cell proliferation, Increased circulating IgG lev... OMIM:618213
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Splenic cyst, Ovarian cyst, Patent ductus arteriosus, Hyperparathyroidism OMIM:618188
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Developmental And Epileptic Encephalopathy 47
Epileptic encephalopathy, Cerebellar atrophy OMIM:617166
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Short stature, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic ... OMIM:147950
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chr... ORPHA:97289
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Upper limb muscle weakness, Optic neu... ORPHA:320375
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Encephalopathy, Pulmona... ORPHA:77261
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Epileptic encephalopathy, Limb hypertonia OMIM:615905
Thymic Carcinoma
Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss, Dyspnea ORPHA:99868
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Abnormal carotid artery morphology, Vascular dilatation, A... ORPHA:3342
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Pyomyositis
Testicular teratoma, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Distal amyotrophy, Scoliosis, Kyphosis, Flexion contracture, Optic disc pallor OMIM:609541
Autosomal Recessive Dopa-Responsive Dystonia
Progressive encephalopathy ORPHA:101150
Kcnq2-Related Epileptic Encephalopathy
Cerebral atrophy, Epileptic encephalopathy, Apnea ORPHA:439218
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Scoliosis, Failure to thrive, I... OMIM:615816
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Oromandibular Dystonia
Torticollis, Weight loss, Respiratory distress ORPHA:93958
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Sacral dimple, Abnormal cortical gyration, Respiratory distres... OMIM:300968
Scarf Syndrome
Hepatocellular adenoma, Abnormal form of the vertebral bodies, Hypoplastic nipples, Bifid scrotum... ORPHA:3134
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Short stature, Biliary tract abnormality, Obesity, Type II diabetes mellitus... ORPHA:3191
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Interrupted aortic arch, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Patent ... ORPHA:163979
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol... ORPHA:99776
Takayasu Arteritis
Abnormal pattern of respiration, Anemia, Weight loss ORPHA:3287
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Hyperhidrosis, Parathyroid ade... ORPHA:358
Sjögren-Larsson Syndrome
Short stature, Scoliosis, Kyphosis ORPHA:816
Huntington Disease-Like 2
Cerebral cortical atrophy, Weight loss OMIM:606438
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Short stature, Bone marrow hypocellular... OMIM:613990
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Kyphosis, Corpus callosum atrophy, Simplified gyral pattern, Cryptorchidism OMIM:619244
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Zellweger Syndrome
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Arteriovenous malformation, Hypert... ORPHA:394
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Epileptic encephalopathy OMIM:616211
Loeffler Endocarditis
Eosinophilia, Dyspnea, Weight loss, Left ventricular hypertrophy ORPHA:75566
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Fle... OMIM:615491
Spastic Paraplegia 53, Autosomal Recessive
Lower limb hypertonia, Kyphosis, Upper limb hypertonia OMIM:614898
Juvenile Huntington Disease
Cerebellar vermis atrophy, Cerebellar atrophy, Weight loss ORPHA:248111
Mercury Poisoning
Respiratory distress, Hypertension, Dyspnea, Hypotension, Tachycardia ORPHA:330021
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Brain atrophy, Apnea, EEG abnormality ORPHA:314655
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Ragged-red muscle fibers, Scapular winging, Muscl... OMIM:607459
Spondyloenchondrodysplasia With Immune Dysregulation
Kyphoscoliosis, Lymphadenopathy, Increased intervertebral space, Scoliosis, T lymphocytopenia, Hy... OMIM:607944
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Epileptic encephalopathy OMIM:613443
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Chromosomal breakage induc... ORPHA:2495
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyp... OMIM:219080
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... ORPHA:93314
Carey-Fineman-Ziter Syndrome 1
Spinal rigidity, Pectoralis hypoplasia, Hypoplasia of the musculature, Scoliosis, Facial palsy, G... OMIM:254940
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Congenital diaphragmatic hernia, Anterior clefting of vertebral bodies, ... OMIM:265000
Pseudo-Torch Syndrome 1
Dystonia, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:251290
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Pontocerebellar Hypoplasia, Type 10
Cerebral cortical atrophy, Cryptorchidism, Limb hypertonia, Encephalopathy OMIM:615803
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies, Oligomenorrhea, Obesity, Pi... OMIM:219090
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Optic atrophy, Cerebral atrophy, Premature pubarche, Premature thelarche, H... OMIM:616878
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope... ORPHA:99889
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Encephalopathy OMIM:617669
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Hepatomegaly, Scoliosis, Hyperlordosis, Cerebellar atrophy, Kyphosis, Short sta... OMIM:618443
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, ... OMIM:614866
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Vaginal neoplasm, Prostate cancer, Abnormal pros... ORPHA:2126
Friedreich Ataxia
Optic atrophy, Scoliosis, Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabete... ORPHA:95
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Hypoventilation, Scoliosis, Elbow flexion contracture, EEG with focal epileptiform... OMIM:618493
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c... ORPHA:398063
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Cryptorchidism, Nonprogressive encephalopathy ORPHA:404451
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Multiple joint contractures, Anterior pituitary hypoplasia, Scoli... ORPHA:464306
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Maternal diabetes, Scoliosis, Decreased muscle mass, Hypoplasti... ORPHA:3027
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Neu... ORPHA:79284
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Developmental And Epileptic Encephalopathy 102
Epileptic encephalopathy, Hepatomegaly OMIM:619881
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Neoplasm of the liver, Back pain, Hepatosplenomega... ORPHA:1333
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Microphthalmia, Lenz Type
Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Camptodactyly of finger, Optic di... ORPHA:568
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased activit... OMIM:252010
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Flexion contracture of digit, I... ORPHA:580
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Macrocytic anemia, Short stature, Growth delay, Intrauterine gro... OMIM:614294
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Ankle flexion contracture, Severe failure to thrive, Hypospadias, Optic nerve h... ORPHA:468631
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebral atrophy, Cholangitis, Periportal fibrosis, Ragged-red muscle fibers, Microvesicular hepa... OMIM:124000
Deeah Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anterior pituitary hypoplasi... OMIM:619004
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Respiratory distress OMIM:617102
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Peritonitis, Weight loss, Metrorrhagia ORPHA:168816
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Limb hypertonia OMIM:618480
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi... ORPHA:699
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Dyspnea, Hypertrop... ORPHA:255210
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Encephalopathy OMIM:614212
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Respiratory distress, Hypoplasia of penis ORPHA:990
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Kyphosis, Skeletal muscle atrophy, Pachygyria, Knee flexion contracture, Thoracic... OMIM:603387
Severe Acute Respiratory Syndrome
Diabetes mellitus, Dyspnea, Respiratory distress ORPHA:140896
Congenital Laryngeal Web
Short stature, Respiratory distress ORPHA:2374
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Hypospadias, Camptodactyly, Abnormality of the Leydig cells, Kyphosis, Short stat... ORPHA:3063
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:96182
Wilson Disease
Cirrhosis, Decreased nerve conduction velocity, Anemia, Hypoparathyroidism, Portal fibrosis, Jaun... OMIM:277900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Respiratory distress, Congenital hypothyro... OMIM:610978
Aspartylglucosaminuria
Beaking of vertebral bodies, Cerebral atrophy, Spondylolysis, Hepatomegaly, Spondylolisthesis, Va... OMIM:208400
Trisomy 20P
Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abn... ORPHA:261318
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Scoliosis, Hump-shaped mound of bone in central and posterior porti... OMIM:313400
Glutaric Acidemia I
Encephalopathy, Hepatomegaly, Infantile encephalopathy OMIM:231670
Meacham Syndrome
Hydrometrocolpos, Congenital diaphragmatic hernia, Abnormal fallopian tube morphology, Hypoplasia... ORPHA:3097
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Rhabdomyolysis, Hyperthyroidism, Weight loss OMIM:188580
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... ORPHA:565
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypsarrhythmia, Frontal polymicrogyria, Gray matter heterotopia, Cerebral cortical atrophy, Failu... OMIM:620024
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Kyphosis, Hypogonadism, EEG a... ORPHA:1606
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Decreased circulating cortisol level, Intracranial hemorrhage, Polycystic ovaries, ... ORPHA:90795
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Cachexia, Short stature ORPHA:220295
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, Hypoplasia of penis, Hemivertebrae, Growth delay, Pat... ORPHA:77298
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Dyspnea, Thrombocytopenia, Leukopenia, ... ORPHA:319218
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Cerebellar atrophy OMIM:603516
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Scoliosis, Camptodactyly, Camptodactyly of finger, Patent ductus ar... OMIM:300963
Developmental And Epileptic Encephalopathy 108
Epileptic encephalopathy, Small pituitary gland OMIM:620115
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Short stature, Bone marr... ORPHA:508542
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ao... ORPHA:363618
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Pontocerebellar atrophy, Increased circulating antibody level, Scoliosis, Distal amyotrophy, Cere... OMIM:606002
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Cushing Disease
Increased circulating ACTH level, Amenorrhea, Optic nerve compression, Vertebral compression frac... ORPHA:96253
Hirschsprung Disease
Neoplasm of the thyroid gland, Aganglionic megacolon, Short stature, Weight loss, Failure to thri... ORPHA:388
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Hepatocellular carc... ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Intraventricular hemorrhage, Cerebellar atrophy OMIM:616430
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Decreased activity of mitochondrial comp... OMIM:619055
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Asparagine Synthetase Deficiency
Global brain atrophy, Limb hypertonia, Encephalopathy, Diaphragmatic eventration, Caudate atrophy OMIM:615574
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Right aortic arch, Pulmonary arterial hypertension, Hypoplastic spleen,... OMIM:620642
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Cryptorchidism, Patent ductus arteriosus OMIM:100100
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Thanatophoric Dysplasia Type 2
Kyphosis, Short stature, Abnormality of neuronal migration, Patent ductus arteriosus, Platyspondyly ORPHA:93274
Noonan Syndrome
Postnatal growth retardation, Juvenile myelomonocytic leukemia, Hepatomegaly, Aplasia/Hypoplasia ... ORPHA:648
Esophageal Atresia
Abnormal vertebral morphology, Maternal diabetes, Respiratory distress, Scoliosis, Abnormal exter... ORPHA:1199
Alfadhel Syndrome
Short stature, Nasal flaring OMIM:620655
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
D-Glyceric Aciduria
Brain atrophy, Progressive encephalopathy ORPHA:941
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Trichinellosis
Encephalopathy, Increased circulating IgE level, Facial palsy, Retinal hemorrhage, Central retina... ORPHA:863
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Bicornuate uterus... ORPHA:958
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome OMIM:141300
Marfan Syndrome
Spondylolisthesis, Cachexia, Scoliosis, Kyphosis, Slender build, Skeletal muscle atrophy ORPHA:558
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Neonatal short-trunk short stature, Scoliosis, Elbow flexion contr... ORPHA:93360
Cowden Syndrome 6
Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hype... OMIM:615109
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Encephalopathy, Left-to-right shunt, Left ventricular hypertrophy OMIM:620510
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Yuan-Harel-Lupski Syndrome
Failure to thrive, Decreased nerve conduction velocity OMIM:616652
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Encephalopathy, Microvesicular hepatic steatosis, Gliosis, Hypertension, Hypertrophic cardiomyopa... OMIM:220111
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Scoliosis, Cerebellar atrophy, Kyphosis, Skeletal m... ORPHA:88644
Castleman Disease
Thrombocytopenia, Anemia, Decreased mean corpuscular volume ORPHA:160
Alg1-Cdg
Cerebral atrophy, Scoliosis, Cerebellar atrophy, Kyphosis ORPHA:79327
Stüve-Wiedemann Syndrome
Sacral dimple, Respiratory distress, Scoliosis, Elbow flexion contracture, Abnormal autonomic ner... ORPHA:3206
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholelithiasis, Cholangitis, Hepato... ORPHA:53035
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Sclerotic vertebral body, Kyphosis, Platyspondyly, Periventricular heterotopia, Ne... OMIM:618476
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Respiratory distress, Hypotension, Retinal hemorrhage, P... ORPHA:509
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypomimic face, Optic atrophy, Abnormal cortical gyration, Kyphosis, Congenital hypothyroidism, C... OMIM:617527
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss, Diabetes insipidus ORPHA:30925
Ramos-Arroyo Syndrome
Aganglionic megacolon, Severe failure to thrive, Respiratory distress, Decreased body weight, Abn... ORPHA:1051
Cystinosis
Corneal opacity ORPHA:213
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Respiratory distress, Narrow vertebral interpedicu... OMIM:100800
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Hypospadias, Optic nerve hypoplasia, Anterior ... OMIM:206900
Campomelic Dysplasia
Kyphoscoliosis, Neonatal short-limb short stature, Hypospadias, Poorly ossified cervical vertebra... OMIM:114290
Chitayat Syndrome
Short stature, Respiratory distress OMIM:617180
Kabuki Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Hypospadias, Hypoplasia of penis, Abnormal ... ORPHA:2322
Aicardi-Goutieres Syndrome 7
Cerebral atrophy, Hepatomegaly, Anemia, Increased circulating antibody level, Limb hypertonia, Pa... OMIM:615846
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Abnormal erythrocyte enzyme concentration or activity, EEG with focal epileptiform... ORPHA:1187
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Epileptic encephalopathy OMIM:620023
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity OMIM:201300
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Weigh... OMIM:275000
3Mc Syndrome 2
Postnatal growth retardation, Caudal appendage, Abnormal vertebral morphology, Torticollis, Hypos... OMIM:265050
Desbuquois Dysplasia 1
Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Kyphosis, Growth delay, Obes... OMIM:251450
Congenital Myopathy 13
Kyphoscoliosis, Scoliosis, Short stature, Increased intramyocellular lipid droplets, Flexion cont... OMIM:255995
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Dyspnea, Orthopnea, Splenomegaly, Eosinophilia, Myocardial calcification ORPHA:75565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Spinal rigidity, Skeletal muscle hypertrophy, Type II lissencephaly, Scoliosi... OMIM:613150
Crisponi Syndrome
Camptodactyly of finger, Scoliosis, Flexion contracture, Kyphosis ORPHA:1545
Pycnodysostosis
Decreased response to growth hormone stimulation test, Spondylolysis, Rhizomelia, Spondylolisthes... ORPHA:763
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis, Weight loss ORPHA:2070
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Anoperineal fistula, Lymphadenopathy, B lymphocytopenia,... OMIM:619381
Unilateral Polymicrogyria
Abnormal posturing, Stroke, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
3Mc Syndrome 3
Sacral dimple, Penoscrotal hypospadias, Bifid scrotum, Diastasis recti, Short stature, Growth del... OMIM:248340
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Limb dystonia, ... OMIM:175780
Marshall-Smith Syndrome
Kyphoscoliosis, Cerebral atrophy, Atlantoaxial dislocation, Optic nerve hypoplasia, Scoliosis, Th... OMIM:602535
Weismann-Netter Syndrome
Scoliosis, Severe short stature, Horizontal sacrum, Kyphosis OMIM:112350
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Growth delay, Intrauterine growth retardation, Short neck ORPHA:238750
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal tubular epithelial necrosis, Retrograde ejaculation, Impotence, Varicoce... ORPHA:49041
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Abnormal cortical gyration, Cerebellar cortical atrophy, Limb hypertonia, Hypsarrh... ORPHA:521426
Scheie Syndrome
Corneal opacity OMIM:607016
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Encephalopathy, Hepatomegaly, Hepatic steatosis OMIM:605911
Chops Syndrome
Optic atrophy, Cervical C2/C3 vertebral fusion, Short stature, Obesity, Splenomegaly, Patent duct... OMIM:616368
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Cowden Syndrome 5
Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism,... OMIM:615108
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Anemia, Scoliosis, Weight loss, Abnormal sacroiliac joint morphology ORPHA:324964
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Postnatal growth retardation, Neurodegeneration, Short stature ORPHA:309246
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Arachnoid Cyst
Facial palsy, Lower limb muscle weakness, Subarachnoid hemorrhage, Paraparesis ORPHA:2356
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Panhypogammaglobulinemia, Hypoplasia of the th... ORPHA:84064
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Slender build, Kyphosis OMIM:300676
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Transposition of the great arteries, Hepatomegaly, Hypoplastic aortic a... OMIM:306955
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Respiratory distress OMIM:606763
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Hypospadias, Respiratory distress, Bifid scrotum, Prominent scrotal raphe, Hypopla... OMIM:123790
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis ORPHA:726
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly ORPHA:584
Marden-Walker Syndrome
Epispadias, Muscular dystrophy, Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Ap... ORPHA:2461
Bruck Syndrome
Scoliosis, Kyphosis, Short stature, Platyspondyly, Arthrogryposis multiplex congenita ORPHA:2771
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, EEG abnormality OMIM:619173
Fucosidosis
Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hepatomegaly, Kyphosis, Hyp... ORPHA:349
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly OMIM:272200
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Hepatomegaly, Scoliosis, Hyperlordosis, Ky... OMIM:253000
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hepatomegaly, Facial hypotonia, Respiratory distress... OMIM:615273
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Neutropenia, Lymphopenia OMIM:620443
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis, Epileptic encephalopathy, Hyperventilation OMIM:614325
Rift Valley Fever
Hematemesis, Abnormal bleeding, Jaundice, Anemia, Melena, Increased circulating IgG level, Gingiv... ORPHA:319251
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Increased circulating IgA level, Hepa... ORPHA:186
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger ORPHA:1883
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Hypomimic face, Titubation ORPHA:225147
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Disproportionate short-limb short stature, Kyphosis OMIM:259440
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Orth... ORPHA:309271
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis, Kyphosis ORPHA:137834
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Failure to ... OMIM:147791
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Khan-Khan-Katsanis Syndrome
Sacral dimple, Anemia, Scoliosis, Short stature, Failure to thrive, Joint contracture, Patent duc... OMIM:618460
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Abnormal form of the vertebral bodies, Kyphosis, Short stature, Short neck ORPHA:3098
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Hypospadias, Scoliosis, Kyphosis, Cryptorchidism, Micropenis, Hypogonadotropic h... OMIM:619718
Pseudomyxoma Peritonei
Lymphadenopathy, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Koolen-De Vries Syndrome
Hypospadias, Scoliosis, Vertebral segmentation defect, Kyphosis, Hypothyroidism, Short stature, C... ORPHA:96169
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Stromme Syndrome
Accessory spleen, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper... ORPHA:99956
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Kyphosis, Limb hypertonia, Patent ductus arteriosus OMIM:619909
Immunodeficiency 55
Postnatal growth retardation, Lymphadenopathy, Short stature, Lymphopenia, Intrauterine growth re... OMIM:617827
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Aplasia of the epiglottis, Hepatomegaly, Respiratory distress, Short stature, S... OMIM:617088
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Skeletal muscle hypertrophy, Cryptorchidism... ORPHA:2588
Mucolipidosis Iii Gamma
Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finger joint contr... OMIM:252605
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopathy, Aortic aneurysm, Cerebral hemorrhage, Skeletal muscle atrophy, Bruising susceptibility,... ORPHA:536545
Von Hippel-Lindau Disease
Distal lower limb muscle weakness, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal ... ORPHA:892
Osteogenesis Imperfecta, Type X
Rhizomelia, Vertebral compression fracture, Respiratory distress, Scoliosis, Short stature, Thora... OMIM:613848
Coffin-Lowry Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Cerebral cortical atro... ORPHA:192
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Cryptorchidism, Kyphosis ORPHA:404440
2Q31.1 Microdeletion Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Abnormality of the hypothalamus-pituitary axi... ORPHA:251014
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Abnormal autonomic nervous system physio... OMIM:300894
Focal Myositis
Myositis, Weight loss ORPHA:48918
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyphosis, Patent ductus arteriosus, ... OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 56
Hypomimic face, Pontocerebellar atrophy, Paraparesis OMIM:617854
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Dyspnea, Leukocytosis, Weight loss ORPHA:67
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Cryptorchidism, Hypothyroidism, Growth delay, Uterine l... ORPHA:1439
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Martin-Probst Syndrome
Pancytopenia, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Short stature, Chordee, Cryptor... OMIM:300519
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Knee flexion contracture, Neuronal loss in central nervous system, Glios... OMIM:300868
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Glucocortocoid-insensitive primary hyperaldosteronism, Inc... ORPHA:171876
Fatal Familial Insomnia
Neuronal loss in central nervous system, Apnea, Abnormal autonomic nervous system physiology, Wei... OMIM:600072
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Accessory spleen, Abnormal form of the vertebral bodies, Severe postn... OMIM:194190
Tangier Disease
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly ORPHA:31150
Polymyositis
Abnormal muscle fiber morphology, Hepatomegaly, Exertional dyspnea, Weight loss ORPHA:732
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Breast aplasia, Hypoplasia of penis, Hyp... ORPHA:3138
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Calcinosis, Premature ovarian insufficiency, Anemia, Hypothyroidism, Short statu... ORPHA:221008
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Recurrent encephalopathy, Arrhythmia OMIM:255120
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hepatosplenomegaly, Flexion contracture, Weight loss, Mild postnatal gro... ORPHA:85408
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hyperlordosis, Kyphosis, Ca... OMIM:618019
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Camptodactyly, Clitoral hypoplasia, Kyphosis, Short stature, Patent duc... OMIM:616894
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cerebellar atrophy, Short stature, Joint contracture, Absent pub... OMIM:615919
Weaver Syndrome
Scoliosis, Diastasis recti, Camptodactyly, Kyphosis, Hydrocele testis, Patent ductus arteriosus, ... OMIM:277590
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Brain atrophy, Epileptic encephalopathy OMIM:620194
Cystinosis, Nephropathic
Cerebral atrophy, Delayed puberty, Male infertility, Hepatomegaly, Primary hypothyroidism, Short ... OMIM:219800
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Oxoglutaric Aciduria
Short stature, Abnormal salivary gland morphology, Skeletal muscle atrophy, Abnormality of Krebs ... ORPHA:31
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Tuberous Sclerosis Complex
Aortic aneurysm, Respiratory distress, Pheochromocytoma, Hypertension, Subependymal giant-cell as... ORPHA:805
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Hemolytic anemia, Hepatic encephalopathy ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Hemolytic anemia, Hepatic encephalopathy ORPHA:529808
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Wei... OMIM:301074
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Elevated circulating... OMIM:162300
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Hypogonadism, Hypopituitarism, ... OMIM:615849
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Brain atrophy, Hydrocele testis OMIM:613603
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musc... ORPHA:2020
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Cardiomyopathy, Hyperhidrosis, Cardiac conduction abnorma... ORPHA:2131
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Impotence, Abnormal autonomic nervous system physiology, Skeletal muscle... OMIM:146500
Biotinidase Deficiency
Respiratory distress, Limb muscle weakness, Apnea, Spastic paraparesis, Hyperventilation ORPHA:79241
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Scoliosis, Macroglossia, Kyphosis ORPHA:79107
Mucolipidosis Type Ii
Postnatal growth retardation, Diastasis recti, Kyphosis, Left ventricular hypertrophy, Short stat... ORPHA:576
Restrictive Dermopathy 2
Intrauterine growth retardation, Respiratory distress OMIM:619793
Adnp Syndrome
Cerebral atrophy, Respiratory distress, Short stature, Cryptorchidism, Truncal obesity ORPHA:404448
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension... ORPHA:466650
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Encephalopathy, Tachypnea, Jaundice OMIM:615751
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Short neck, Cryptorchi... ORPHA:2789
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Hyperlordosis, Kyphosis, EEG abnormality, Optic atrophy, Cervical spinal canal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Hyperlordosis, Kyphosis, EEG abnormality, Optic atrophy, Cervical spinal canal... ORPHA:363958
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary... ORPHA:2255
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gallbladder dysfunction, Cholecystitis OMIM:250100
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Bronchial Neuroendocrine Tumor
Hepatomegaly, Dyspnea, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Weight l... ORPHA:97287
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Testicular atrophy OMIM:300322
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Postnatal growth retardation, Juvenile myelomonocytic leukemia, Short stature, Failure to thrive,... OMIM:613563
Achondroplasia
Cervical spinal canal stenosis, Disproportionate short stature, Rhizomelia, Kyphosis, Spinal cana... ORPHA:15
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Hypospadias, Scoliosis, Kyphosis, Short stature, Ambiguous genitalia, Cryptorchid... OMIM:301111
Hydranencephaly
Abnormal internal carotid artery morphology, Cerebral cortical atrophy, Dilatation of the ventric... ORPHA:2177
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Thoracic kyphoscoliosis, Wrist flexion contracture, Congenital cont... OMIM:616503
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Exertional dyspnea, Aortic regurgitation, Angina pectoris,... ORPHA:740
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Epileptic encephalopathy, Cryptorchidism OMIM:620073
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Chol... ORPHA:309256
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Pancytopenia,... ORPHA:1855
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Short stature, ... ORPHA:3219
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth... ORPHA:391487
Arboleda-Tham Syndrome
Optic atrophy, Respiratory distress, Lower limb amyotrophy, Bilateral cryptorchidism, Growth dela... OMIM:616268
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Optic nerve compre... ORPHA:79078
Alexander Disease
Scoliosis, Hyperlordosis, Facial palsy, Abnormal autonomic nervous system physiology, Kyphosis, P... ORPHA:58
Myoclonic-Astatic Epilepsy
Epileptic encephalopathy ORPHA:1942
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Chol... ORPHA:309263
Multiple Myeloma
Anemia, Lymphadenopathy, Vertebral compression fracture, Increased circulating IgG level, Increas... ORPHA:29073
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Abnormality of the tongue muscle, Decreased response to growth hormon... ORPHA:273
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal lower limb muscle weakness OMIM:613640
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Sacral dimple, Kyphosis OMIM:618272
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibod... OMIM:615688
Acute Disseminated Encephalomyelitis
Encephalopathy, Viral hepatitis ORPHA:83597
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Tangier Disease
Opacification of the corneal stroma, Splenomegaly OMIM:205400
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Splenomegaly, Weight loss, Peritonitis, C... ORPHA:131
Central Diabetes Insipidus
Failure to thrive, Weight loss, Diabetes insipidus ORPHA:178029
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Weight loss, Tachypnea, Thrombocytosis ORPHA:134
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Sacral dimple, Abnormal vertebral morphology, Hyp... ORPHA:280
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Encephalopathy, Adrenal hyperplasia, Decreased circulating cortisol level, Macroorchidism ORPHA:90790
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Acute Transverse Myelitis
Distal lower limb muscle weakness, Orthostatic hypotension, Hypertension, Upper limb muscle weakn... ORPHA:139417
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Orthostatic hypotension, Frontal cortical atrophy, Distal amyotr... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Scapular winging, Kyphosis, Patent ductus arteriosus OMIM:617061
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Eosinophilia, Central nervous system degeneration, Weight loss ORPHA:183
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
De Barsy Syndrome
Cataract, Athetosis, Corneal opacity ORPHA:2962
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Multifocal epileptiform discharges, Delayed puberty, Jaundice, Torticollis, Hypospadias, Hypsarrh... OMIM:619475
Systemic Capillary Leak Syndrome
Pancreatitis, Leukocytosis, Weight loss ORPHA:188
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mend Syndrome
Sacral dimple, Limb hypertonia, Abnormal auditory evoked potentials, Kyphosis, Short stature, Fai... ORPHA:401973
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Increa... OMIM:181000
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Malignant Peritoneal Mesothelioma
Peritonitis, Dyspnea, Weight loss ORPHA:168811
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal autonomic nervous system physiology, Spinal canal stenosis, Weight loss, O... ORPHA:330001
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Stevens-Johnson Syndrome
Anemia, Pancreatitis, Dyspareunia, Dyspnea, Thrombocytopenia, Weight loss, Abnormality of neutrop... ORPHA:36426
Erdheim-Chester Disease
Anemia, Diabetes insipidus, Dyspnea, Weight loss, Retroperitoneal fibrosis, Hypogonadotropic hypo... ORPHA:35687
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Poland Syndrome
Acute leukemia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Hypospad... ORPHA:2911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly OMIM:236670
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Failure to thrive, Apnea, Tachypnea OMIM:610921
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Postnatal growth retardation, Scoliosis, Thoracic kyphosis, Rhizomel... OMIM:223800
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Epileptic encephalopathy, Dilation of Virchow-Robin spaces, Flexion contracture ORPHA:2148
Ulbright-Hodes Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Res... ORPHA:3404
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Scoliosis, Macroglossia, Kyphosis ORPHA:261144
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Cerebral Creatine Deficiency Syndrome 2
Paraparesis OMIM:612736
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
X-Linked Adrenoleukodystrophy
Paraparesis, Leg muscle stiffness, Progressive spastic paraparesis, Abnormality of adrenal physio... ORPHA:43
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, External genital hypoplasia, Jaundice, Hypsarrhythmia, Obesity, Diabetes mellitus,... OMIM:614231
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Dyspnea, Lymphadenitis, Paraparesis, Increased circulating IgG4 level, E... ORPHA:449427
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Spinal rigidity, Facial palsy OMIM:616720
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Lathosterolosis
Anisopoikilocytosis, Microcornea, Abnormal platelet morphology, Thrombocytopenia, Cataract, Opaci... ORPHA:46059
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Acute Adrenal Insufficiency
Delayed puberty, Normocytic anemia, Orthostatic hypotension, Adrenal hypoplasia, Androgen insuffi... ORPHA:95409
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Scoliosis, Kyphosis, Short stature, Atlantoaxial instability, Hypopl... OMIM:607326
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hermansky-Pudlak Syndrome
Dyspnea, Abnormality of visual evoked potentials, Weight loss, Menometrorrhagia, Neutropenia ORPHA:79430
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Increased circulating a... ORPHA:289390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Hypospadias, Hypoplasia of penis, Increased circul... ORPHA:373
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Global brain atrophy, Anemia, Epileptic encephalopathy, Acanthocytosis, Schi... OMIM:616457
Developmental And Epileptic Encephalopathy 29
Cerebral atrophy, Epileptic encephalopathy OMIM:616339
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Gray matter heterotopia, Kyphosis, Abnormal sacroiliac joint morphology... ORPHA:1860
Secondary Short Bowel Syndrome
Aganglionic megacolon, Primary hypothyroidism, Cholestasis, Central hypothyroidism, Failure to th... ORPHA:95427
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Bradycardia, Megaloblastic anemia, Car... OMIM:277400
Leopard Syndrome 1
Kyphoscoliosis, Delayed puberty, Hypospadias, Spina bifida occulta, Hypoplasia of the ovary, Scap... OMIM:151100
Spondyloepiphyseal Dysplasia Congenita
Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Growth... ORPHA:94068
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Male pseudohermaphroditism, Short stature, Short neck, Patent ductus arteriosus, Int... ORPHA:2282
Nocardiosis
Abnormality of the adrenal glands, Liver abscess, Respiratory distress, Thyroiditis, Dyspnea, Lym... ORPHA:31204
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Clitoral hypertrophy, Hypospadias, Scoliosis, Kyphosis OMIM:616449
Surfactant Metabolism Dysfunction, Pulmonary, 2
Tachypnea, Dyspnea, Pulmonary arterial hypertension, Respiratory distress OMIM:610913
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Radio-Renal Syndrome
Respiratory distress, Abnormal form of the vertebral bodies, Dyspnea, Severe short stature, Short... ORPHA:3015
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Scoliosis, Abnormal autonomic nervous system physiology, Ten... ORPHA:285
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Jaberi-Elahi Syndrome
Optic atrophy, Cerebellar vermis atrophy, Scoliosis, Kyphosis, Failure to thrive OMIM:617988
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Clitoral hypertrophy, Aganglionic megacolon, Abno... ORPHA:818
17Q12 Microdeletion Syndrome
Cerebral atrophy, Subcortical cerebral atrophy, Pancreatic aplasia, Short stature, Diabetes melli... ORPHA:261265
Incontinentia Pigmenti
Cataract, Eosinophilia, Corneal opacity, Keratitis ORPHA:464
Fabry Disease
Cornea verticillata, Anemia, Corneal dystrophy, Corneal opacity, Conjunctival telangiectasia, Cat... ORPHA:324
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Jaundice, Reduced left ventricular ej... ORPHA:99829
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis, Hepati... ORPHA:247585
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Lymphadenopathy, Increased circulating IgG1 level, Sclerosing cholangi... ORPHA:449395
Hajdu-Cheney Syndrome
Delayed puberty, Hepatomegaly, Hypospadias, Scoliosis, Kyphosis, Biconcave vertebral bodies, Fail... ORPHA:955
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Neoplasm of the pancreas, Hepatocellular carcinoma, Pituitary aden... ORPHA:440437
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Atrophy/Degeneration in... ORPHA:70595
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Sacral dimple, Hypospadias, Breast aplasia... ORPHA:268261
Lissencephaly Due To Lis1 Mutation
Epileptic encephalopathy, Dilation of Virchow-Robin spaces ORPHA:95232
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Scoliosis, Kyphosis, Male pseudohermaphroditism, Short statur... ORPHA:140
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Cryptorchidism, Precocious puberty, Patent ductus art... ORPHA:96191
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Scapular winging, Neurodegeneration OMIM:614298
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Kyphosis, Short stature, Short neck, Macroglossia ORPHA:1798
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Scoliosis, Facial palsy, Kyphosis, Cryptorc... ORPHA:2658
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Scoliosis, Kyphosis, Cryptorchidism, Slender build, Right ventri... OMIM:300967
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Hennekam Syndrome
Lymphadenopathy, Decreased circulating antibody level, Camptodactyly of finger, Lymphangioma, Spl... ORPHA:2136
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Horner syndrome, Anemia, Weight loss OMIM:256700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Rat-Bite Fever
Anemia, Pancreatitis, Parotitis, Tendonitis, Lymphadenitis, Back pain, Weight loss ORPHA:31205
Choreoacanthocytosis
Hepatomegaly, Frontal cortical atrophy, Distal amyotrophy, Abnormal erythrocyte enzyme concentrat... ORPHA:2388
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Primrose Syndrome
Delayed puberty, Distal amyotrophy, Bilateral cryptorchidism, Hypergonadotropic hypogonadism, Kyp... OMIM:259050
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Global brain atrophy, Respiratory distress, Cerebellar atrophy, Failure to thri... OMIM:618426
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly ORPHA:579
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Phimosis, De... OMIM:305000
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Doors Syndrome
Optic atrophy, Spina bifida occulta, Respiratory distress, Polymicrogyria, Hemivertebrae, Congeni... ORPHA:79500
Sarcoidosis
Increased T cell count, Leukopenia, Abnormal reproductive system morphology, Enlarged lacrimal gl... ORPHA:797
Auriculocondylar Syndrome
Vein of Galen aneurysmal malformation, Respiratory distress ORPHA:137888
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Hemobilia, Abnormality of visual evoked potentials, Neoplasm... ORPHA:512
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Cataract, Opacification of the co... OMIM:158310
Alpha-Mannosidosis, Infantile Form
Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract ORPHA:309282
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Exertional dyspnea, Testicular microlithiasis, Dyspnea, Weight loss, Gonadal calcif... ORPHA:60025
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Scoliosis, Enlarged p... ORPHA:201
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Nor... ORPHA:97282
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Disproportionate short-limb short stature, Scoliosis, Elbow flexion contracture, Kyphosis, Crypto... OMIM:619194
Lymphatic Malformation 7
Varicose veins, Anemia, Respiratory distress OMIM:617300
Pseudoachondroplasia
Beaking of vertebral bodies, Childhood onset short-limb short stature, Disproportionate short-lim... OMIM:177170
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Agyria, Polymicrogyria OMIM:616538
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Severe short stature, Intrauterine growth ret... ORPHA:1005
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Hypoplasia of the iris OMIM:613001
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Intercostal retractions, Right aortic arch, Dyspnea, P... ORPHA:95430
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Respiratory distress OMIM:610536
Developmental And Epileptic Encephalopathy 103
Epileptic encephalopathy OMIM:619913
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss ORPHA:33577
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypospadias, Cholelithiasis, Scoliosis, Kyphosis, Contracture of the proximal i... ORPHA:464738
8Q24.3 Microdeletion Syndrome
Global brain atrophy, Spina bifida occulta, Respiratory distress, Optic nerve hypoplasia, Thoraci... ORPHA:508488
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement... ORPHA:50918
Glycerol Kinase Deficiency
Muscular dystrophy, Chronic pancreatitis, Short stature, Growth delay, Adrenocortical hypoplasia,... OMIM:307030
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Bickerstaff Brainstem Encephalitis
Abnormal cranial nerve morphology, Facial palsy, Dyspnea, Limb muscle weakness, Abnormality of th... ORPHA:79138
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity, Splenomegaly ORPHA:581
Somatostatinoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypochromic microcytic anemia... ORPHA:97283
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Whim Syndrome
Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, C... ORPHA:51636
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno... OMIM:193300
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Intrauterine... OMIM:619573
Congenital Total Pulmonary Venous Return Anomaly
Exertional dyspnea, Apneic episodes in infancy, Mixed total anomalous pulmonary venous connection... ORPHA:99125
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Adrenal insufficiency OMIM:614863
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Dyspnea, Weight loss ORPHA:79127
Noonan Syndrome 1
Kyphoscoliosis, Postnatal growth retardation, Juvenile myelomonocytic leukemia, Male infertility,... OMIM:163950
Osteootohepatoenteric Syndrome
Anemia, Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolon... OMIM:619377
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Brachyolmia Type 3
Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Platyspondyly, Short neck OMIM:113500
Fliedner-Zweier Syndrome
Scoliosis, Obesity, Cerebellar atrophy, Kyphosis OMIM:620511
Developmental And Epileptic Encephalopathy 84
Epileptic encephalopathy OMIM:618792
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Kyphosis, Splenomegaly, Decreased circulat... ORPHA:64
Distal 16P11.2 Microdeletion Syndrome
Obesity, Aganglionic megacolon, Kyphosis ORPHA:261222
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Paraparesis, Anemia, Acute encephalopathy OMIM:620358
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Neurodegeneration OMIM:606159
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Aganglionic megacolon, Glandular hypospadias, Urogenital sinus anomaly, Short s... ORPHA:2473
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Scoliosis, Kyphosis... OMIM:259420
Osteogenesis Imperfecta
Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Aortic dissecti... ORPHA:666
Cole-Carpenter Syndrome 2
Platyspondyly, Postnatal growth retardation, Kyphosis, Short stature OMIM:616294
Plague
Hematemesis, Abnormal bleeding, Hepatomegaly, Respiratory distress, Lymphadenitis, Hypotension, S... ORPHA:707
Intellectual Developmental Disorder, Autosomal Dominant 73
Cerebellar vermis atrophy, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Thoracolumbar scoli... OMIM:620450
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus... OMIM:618280
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage OMIM:619714
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Hereditary Angioedema Type 1
Dyspnea, Hypotension, Respiratory distress ORPHA:100050
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Hypothyroidism, Short stature, EEG abnormality ORPHA:2479
Thrombocytopenia-Absent Radius Syndrome
Anemia, Corneal opacity, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Cataract, Eosinophilia OMIM:274000
Fryns Syndrome
Corneal opacity ORPHA:2059
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Dyspnea, Vaginal neoplasm, Failure to thrive, Weight loss, U... ORPHA:1018
Loeys-Dietz Syndrome 3
Arterial tortuosity, Tortuous cerebral arteries, Aortic tortuosity, Pulmonic stenosis, Descending... OMIM:613795
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hypoventilation, Optic nerve hypoplasia, Phimosis, Short stature, Failure to thrive, Chordee, Pat... OMIM:620455
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Hepatomegaly, Facial palsy OMIM:619424
Liver Disease, Severe Congenital
Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Hepatic steatosis, Hepatic encephal... OMIM:619991
Developmental And Epileptic Encephalopathy 38
Epileptic encephalopathy, Limb hypertonia OMIM:617020
Perry Syndrome
Hypoventilation, Central hypoventilation, Weight loss OMIM:168605
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Jaundice, Respiratory distress, Microvesicular hepatic steat... OMIM:617156
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma OMIM:150800
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Atypical pulmonary c... ORPHA:100075
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Pontocerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar ... ORPHA:171629
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma ORPHA:536471
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Global brain atrophy, Cerebral degeneration, Decreased muscle mass, Neurodegenerat... OMIM:234200
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Platyspo... OMIM:108300
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Cleidocranial Dysplasia 1
Spondylolysis, Spondylolisthesis, Respiratory distress, Scoliosis, Kyphosis, Short stature, Moder... OMIM:119600
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Dyspnea, Failure to thrive, Weight loss ORPHA:79128
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Left ventricular systolic dysfunction, Respiratory distress, Stroke, ... ORPHA:51608
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Anemia, Respiratory distress, Dyspnea, Growth delay, Failure t... ORPHA:79404
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Short s... OMIM:618050
Gaucher Disease
Anemia, Pancytopenia, Tremor, Corneal opacity, Splenic infarction, Splenic rupture, Leukopenia, S... ORPHA:355
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Cere... OMIM:137920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Failure to thrive, Lumbar scoliosis, Lymphangioma, Growth de... ORPHA:99646
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Abnormal lumbar spine morphology, Abnormality of the autonomic nervous system, Tooth absc... ORPHA:642
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Nor... ORPHA:97280
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Weight loss ORPHA:654
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Pituitary growth hormo... ORPHA:963
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Large for gestational age, Facial hypotonia, Kyphosis, Cerebral cortical atrophy,... ORPHA:457359
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Short stature, Posterior scalloping of vert... OMIM:603546
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Postnatal growth retardation, Sacral dimple, Prominent protruding coccyx, Scoliosis, Cerebellar a... OMIM:300966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response OMIM:253800
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Sacral dimple, Disproportionate short-limb short stature, ... ORPHA:1507
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Biliary cirrhosis, Kyphosis, Intrauterine growth reta... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Biliary cirrhosis, Kyphosis, Intrauterine growth reta... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Biliary cirrhosis, Kyphosis, Intrauterine growth reta... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Biliary cirrhosis, Kyphosis, Intrauterine growth reta... ORPHA:881
Developmental And Epileptic Encephalopathy 2
Epileptic encephalopathy, Hyperventilation OMIM:300672
Mosaic Variegated Aneuploidy Syndrome
Cataract, Acute lymphoblastic leukemia, Corneal opacity ORPHA:1052
Oculocerebrorenal Syndrome Of Lowe
Anemia, Corneal opacity, Thrombocytopenia, Cataract, Buphthalmos, Abnormal pupil morphology, Lent... ORPHA:534
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100080
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Charge Syndrome
Delayed puberty, Postnatal growth retardation, Decreased response to growth hormone stimulation t... OMIM:214800
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Splenomegaly, Pancytopenia OMIM:231005
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute encephalopathy, Cerebral cortical atrophy, Tachypnea, Hepatitis ORPHA:415
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Sacral dimple, Abnormal cortical gyration, Respiratory distress, Cyst of the duc... ORPHA:480880
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Kyphosis, Pituitary adenoma, El... OMIM:300942
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Neurofibromatosis Type 1
Delayed puberty, Rhabdomyosarcoma, Abnormality of the endocrine system, Pheochromocytoma, Scolios... ORPHA:636
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short stature, Scoliosis, Kyphosis ORPHA:261190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Trisomy 9P
Short neck, Scoliosis, Sacral dimple, Kyphosis ORPHA:236
Mucopolysaccharidosis, Type Vi
Corneal opacity, Splenomegaly OMIM:253200
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sacral dimple, Kyphosis, Diabetes mellitus, Thoracic scoliosis, Cryptorchidism ORPHA:536532
Holt-Oram Syndrome
Scoliosis, Kyphosis, Patent ductus arteriosus ORPHA:392
Somatomammotropinoma
Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Kyphosis, Pituitary p... ORPHA:314769
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Diphallia
Penoscrotal transposition, Epispadias, Butterfly vertebrae, Bifid penis, Hypospadias, Ectopic scr... ORPHA:227
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Cho... ORPHA:97261
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Rhizomelic arm shortening, Kyphosis, Short stature, Ovoid vertebral bo... OMIM:271700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas ORPHA:935
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Short stature, Intrauterine growth re... ORPHA:2050
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Jaundice, A... ORPHA:913
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Thyroid hypoplasia, Hypothyroidism, Camptodactyly of finger, Failure to thrive,... ORPHA:3047
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Vaginal stricture, Renal tubular epithelial necrosis, Vaginal dryness, Anemia, Respiratory distre... ORPHA:95455
Kindler Epidermolysis Bullosa
Corneal opacity, Anemia, Conjunctivitis ORPHA:2908
Moebius Syndrome
Corneal opacity ORPHA:570
Monosomy 9Q22.3
Large for gestational age, Rhabdomyosarcoma, Abnormality of the vertebral column, Ovarian fibroma... ORPHA:77301
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100082
Gerstmann-Straussler Disease
Cerebellar atrophy, Weight loss, Lower limb muscle weakness OMIM:137440
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Cho... ORPHA:97278
Zttk Syndrome
Optic atrophy, Scoliosis, Hemivertebrae, Kyphosis, Short stature, Failure to thrive, Growth delay... OMIM:617140
Behçet Disease
Pancreatitis, Lymphadenopathy, Myositis, Splenomegaly, Orchitis, Weight loss ORPHA:117
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Cerebellar atrophy, Abnormal autonomic nervous s... OMIM:614575
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis, Simplified gyral pattern, Pachygyria, EEG abnormality OMIM:613454
Kufor-Rakeb Syndrome
Torticollis, Leg muscle stiffness, Paraparesis OMIM:606693
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta c... ORPHA:99885
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:424
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc... ORPHA:2062
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger, Failur... OMIM:309000
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Abnormal glossopharyngeal nerve morphology, Weight loss, Crani... ORPHA:221098
Mend Syndrome
Sacral dimple, Kyphosis, Short stature, Failure to thrive, Cryptorchidism OMIM:300960
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Giant Cell Arteritis
Optic atrophy, Mediastinal lymphadenopathy, Weight loss, Diabetes insipidus ORPHA:397
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Abnormal vertebral morphology, Abnormality of the vertebral column, Subcor... ORPHA:2273
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Optic disc coloboma, Weight loss ORPHA:92050
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland, Weight loss ORPHA:52417
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Respiratory distress, Pulmonary a... ORPHA:141127
Pmm2-Cdg
Kyphoscoliosis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver pa... ORPHA:79318
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea... ORPHA:143
Reynolds Syndrome
Calcinosis, Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia OMIM:613471
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Sclerocornea, Iris coloboma OMIM:309801
Developmental And Epileptic Encephalopathy 49
Epileptic encephalopathy OMIM:617281
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the eccrine swea... OMIM:305100
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Unilatera... OMIM:613406
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Cerebral cortical atrophy, Weight loss, Orthostatic hypotension due to autonomic ... ORPHA:411602
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Dystonia, Hypoplasia of the iris OMIM:251300
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Growth delay, Patent ductus arteriosus, Shawl scrotum, Cryptorchidism, Micropenis OMIM:600460
Chime Syndrome
Acute leukemia, Corneal opacity ORPHA:3474
Bilateral Perisylvian Polymicrogyria
Abnormality of masticatory muscle, Limb hypertonia, Facial diplegia, Paraparesis, Apnea, Distal a... ORPHA:98889
Choanal Atresia
Respiratory distress ORPHA:137914
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Lynch Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Neoplasm of the pancreas, Ovarian neoplasm, Hepa... ORPHA:144
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca ORPHA:495875
Ramon Syndrome
Enlarged labia minora, Scoliosis, Decreased body weight, Kyphosis, Short stature, Optic disc pallor OMIM:266270
Osteosarcoma
Weight loss ORPHA:668
Granulomatosis With Polyangiitis
Prostatitis, Pancreatitis, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, We... ORPHA:900
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Sotos Syndrome
Cerebral atrophy, Ankle flexion contracture, Aganglionic megacolon, Abnormal vertebral morphology... ORPHA:821
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Kyphosis, Short stature, Growth delay OMIM:619557
Acrodermatitis Enteropathica
Cerebral cortical atrophy, Failure to thrive, Weight loss, Short stature ORPHA:37
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Postnatal growth retardation, Clitoral hypertrophy, Sacral dimpl... OMIM:135900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Scapular winging, Kyphosis OMIM:616914
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology OMIM:605543
Double Outlet Left Ventricle
Failure to thrive, Tachypnea, Cryptorchidism, Patent ductus arteriosus ORPHA:3427
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Polyarteritis Nodosa
Weight loss ORPHA:767
Postinfectious Vasculitis
Increased circulating antibody level, Abnormality of the peripheral nervous system, Increased cir... ORPHA:48435
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Myopathy, Sa... ORPHA:904
Kinsship Syndrome
Brain atrophy, Epileptic encephalopathy OMIM:619297
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Scoliosis, Scapular winging, Kyphosis, Short stature, Failure to t... OMIM:278250
Meckel Syndrome
Accessory spleen, Microcornea, Asplenia, Sclerocornea, Cataract, Aplasia/Hypoplasia of the iris ORPHA:564
Chronic Graft Versus Host Disease
Pancytopenia, Abnormal vagina morphology, Phimosis, Dyspnea, Flexion contracture, Weight loss ORPHA:99921
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Floating-Harbor Syndrome
Kyphoscoliosis, Hypospadias, Precocious puberty, Varicocele, Short stature, Growth delay, Epididy... ORPHA:2044
Phace Syndrome
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma ORPHA:42775
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Larsen Syndrome
Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Opacification of the corneal stroma, Brushfield spots OMIM:214100
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim... ORPHA:99819
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:610217
Cap Polyposis
Weight loss ORPHA:160148
Juvenile Dermatomyositis
Myositis, Calcinosis, Dyspnea, Weight loss ORPHA:93672
Cono-Spondylar Dysplasia
Failure to thrive, Scoliosis, Short neck, Kyphosis ORPHA:420794
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Cdags Syndrome
Kyphosis, Hypospadias, Rectovaginal fistula OMIM:603116
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis OMIM:608710
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Scoliosis, Kyphosis ORPHA:476126
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Failure to thrive, Kyphosis OMIM:239000
Proboscis Lateralis
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:141099
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Extrahepatic cholestasis, Wei... ORPHA:100078
Floating-Harbor Syndrome
Kyphoscoliosis, Hypospadias, Glandular hypospadias, Short stature, Varicocele, Epididymal cyst, S... OMIM:136140
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Splenomegaly, Hepatosplenomegaly ORPHA:217085
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Splenomegaly, Hepatosplenomegaly ORPHA:217093
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Liposarcoma
Weight loss ORPHA:69078
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Rhizomelia, Intervertebral space narrowing, Scoliosis, Kyphosis, Narrow vertebral... OMIM:143095
Oculoectodermal Syndrome
Limbal dermoid, Microcornea, Astigmatism, Opacification of the corneal stroma OMIM:600268
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Kyphosis OMIM:609944
Peters Plus Syndrome
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Yao Syndrome
Weight loss OMIM:617321
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Weigh... ORPHA:103918
Friedreich Ataxia 2
Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hypertrophic cardio... OMIM:601992
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials OMIM:608984
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss ORPHA:309031
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Weight loss ORPHA:747
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Scoliosis, Hyperlordosis, Cerebellar atrophy, Kyphosis, Cerebral corti... OMIM:617011
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
African Trypanosomiasis
Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormality of ... ORPHA:3385
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Frank-Ter Haar Syndrome
Kyphoscoliosis, Kyphosis, Camptodactyly, Growth delay, Anterior concavity of thoracic vertebrae, ... OMIM:249420
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
17Q11 Microdeletion Syndrome
Delayed puberty, Rhabdomyosarcoma, Beaking of vertebral bodies T12-L3, Elevated circulating parat... ORPHA:97685
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Alkaptonuria
Intervertebral disk degeneration, Kyphosis, Thickened Achilles tendon, Low back pain, Vertebral f... OMIM:203500
Systemic Lupus Erythematosus
Lymphadenopathy, Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia ORPHA:536
Branchiooculofacial Syndrome
Postnatal growth retardation, Hypospadias, Elbow flexion contracture, Facial palsy, Hyperlordosis... OMIM:113620
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss ORPHA:677
Opsoclonus-Myoclonus Syndrome
Encephalopathy, Ovarian teratoma ORPHA:1183
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Splenomegaly, Megalocornea OMIM:252500
Osteogenesis Imperfecta, Type Viii
Vertebral compression fracture, Disproportionate short-limb short stature, Scoliosis, Kyphosis, P... OMIM:610915
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Nasal flaring ORPHA:466943
Paget Disease Of Bone 2, Early-Onset
Paraparesis OMIM:602080
Wiedemann-Rautenstrauch Syndrome
Cataract, Tremor, Corneal opacity, Action tremor ORPHA:3455
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Arrhythmia, Paraparesis OMIM:164200
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Xeroderma Pigmentosum
Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma ORPHA:910
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Anomalous origin of right coronary artery from the pulmonary artery, A... OMIM:616462
Dermatomyositis
Inflammatory myopathy, Myositis, Abnormal eosinophil morphology, EMG: myopathic abnormalities, Li... ORPHA:221
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Neurofibromatosis, Familial Spinal
Lower limb muscle weakness, Paraparesis OMIM:162210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Scoliosis, Kyphosis, Apnea, Hypopnea OMIM:619482
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn... OMIM:263650
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ... OMIM:259770
Fraser Syndrome 1
Corneal opacity OMIM:219000
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Epileptic encephalopathy, Hypertension OMIM:300896
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Kyphosis ORPHA:85199
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Increased circulating a... ORPHA:91500
Shprintzen Omphalocele Syndrome
Scoliosis, Decreased body weight, Kyphosis, Short stature, Lumbar hyperlordosis OMIM:182210
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Arteriovenous... ORPHA:286
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Decreased body weight, Kyphosis, Short stature, Uterine prolapse OMIM:303600
Isolated Arrhinia
Respiratory distress ORPHA:1134
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Sclerocornea, Splenomegaly, Thrombocytop... OMIM:188400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Lymphedema-Distichiasis Syndrome
Kyphosis, Patent ductus arteriosus OMIM:153400
Familial Osteodysplasia, Anderson Type
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity, Accessory spleen OMIM:268300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Occipital Horn Syndrome
Platyspondyly, Orthostatic hypotension, Kyphosis, Growth delay OMIM:304150
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Hypoplastic nipples, Birth length less than 3rd percentile... OMIM:216340
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Occipital Horn Syndrome
Jaundice, Scoliosis, Cholestasis, Kyphosis, Platyspondyly, Hepatitis ORPHA:198
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Anemia, Weight loss OMIM:233450
Spondyloarthropathy, Susceptibility To, 1
Back pain, Sacroiliac arthritis, Kyphosis OMIM:106300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Anemia, Exaggerated startle response ORPHA:438213
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Kyphosis, Short stature ORPHA:1393
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress OMIM:614748
Reactive Arthritis
Weight loss ORPHA:29207
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Corneal neovascularization, Kera... OMIM:308205
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Disproportionate short-tru... OMIM:300106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287

Histopathology

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

There is no histopathology data for Parl

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Parltm43824(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Parltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Parltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Parltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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