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Gene: Parl MGI:1277152

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	Allele	Zyg	Life Stage	P Value
increased mean corpuscular volume	Parl^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.88×10^-05
corneal opacity	Parl^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.76×10^-05
increased startle reflex	Parl^{tm1a(EUCOMM)Hmgu}	HET	Early adult	7.80×10^-06

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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.

Human diseases associated with Parl (0 diseases)
Human diseases predicted to be associated with Parl (2574 diseases)

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	Matching phenotypes	Source
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Patent ductus...	OMIM:619519
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi...	OMIM:614399
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Morquio Syndrome C	Corneal opacity	OMIM:252300
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort...	ORPHA:178464
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ...	ORPHA:90103
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Respiratory insu...	OMIM:301830
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Cough, Abn...	ORPHA:77260
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea, Myopathy, Brain atrophy, Decreased activity of mitochondrial complex I, Hypertrophic cardi...	OMIM:618236
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Facial palsy, Cachexia, Respiratory insufficiency, Hy...	ORPHA:97229
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Mcdonough Syndrome	Short stature, Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:2471
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li...	ORPHA:139536
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness...	OMIM:620068
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c...	ORPHA:101075
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	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Cryptorchid...	ORPHA:457205
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Parapar...	ORPHA:275872
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Immunodeficiency 95	Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin...	OMIM:619773
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mit...	OMIM:613642
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Respirato...	ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m...	OMIM:616045
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Respiratory insufficiency, Distal amyotroph...	OMIM:619042
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Intrinsic hand muscle atrophy,...	ORPHA:276435
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Foot dorsiflexor weakness, Hype...	ORPHA:298
Caudal Appendage-Deafness Syndrome	Cryptorchidism, Short stature, Caudal appendage	ORPHA:1123
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ...	OMIM:619112
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Stt3B-Cdg	Cerebellar atrophy, Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Intrauter...	ORPHA:370924
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Hand muscle weakness, In...	ORPHA:101077
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Flexion contracture, Myopathy, Decreased activity of mitochondrial complex I,...	OMIM:618237
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Intrauter...	OMIM:615597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Kyph...	ORPHA:48431
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor...	ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac...	OMIM:607684
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchi...	OMIM:618484
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ...	ORPHA:86812
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird...	OMIM:620386
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Small scrotum, Internally nucleated skeletal muscle fibers, Flexion cont...	ORPHA:98905
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Apnea, Cardiac arrest, Cerebral atrophy, Bradycardia, Decreased activity of mitocho...	OMIM:618235
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond...	OMIM:604320
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Short stature, Facial palsy, Respiratory insufficiency due to muscle weakne...	OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials	OMIM:608673
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Hand muscle weakness, Decreased nerve conduction velocity, Quadri...	ORPHA:99948
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle...	OMIM:613561
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Cerebral Cavernous Malformations	Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation	OMIM:116860
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo...	OMIM:300696
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Aicardi-Goutieres Syndrome 2	Lymphocytosis, Cerebral atrophy, Encephalopathy	OMIM:610181
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease...	OMIM:605726
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Cerebral atrophy, Left superior vena cava draining dire...	OMIM:613759
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Mitochondrial Complex I Deficiency, Nuclear Type 7	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Brain atrophy, Enceph...	OMIM:618229
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Bowen-Conradi Syndrome	Short stature, Camptodactyly of finger, Cryptorchidism, Severe postnatal growth retardation, Seve...	ORPHA:1270
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Cerebral atrophy, Astrocytosis, Gliosis, Neur...	ORPHA:204
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Encephalopathy, Epileptic encephalopathy	OMIM:616341
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re...	ORPHA:254864
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal in...	ORPHA:2047
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie...	OMIM:300718
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The...	OMIM:614751
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Scoliosis, Di...	OMIM:618912
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolys...	ORPHA:449285
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Spinal muscular atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Enceph...	OMIM:617207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W...	OMIM:615575
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Silver-Russell Syndrome	Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ...	ORPHA:813
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist...	OMIM:608323
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Moynahan Syndrome	Short stature, Hypogonadism, Cachexia	ORPHA:2574
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract...	OMIM:618323
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory insufficiency due...	OMIM:618184
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Brain atrophy, Cerebral atrophy, Encephalopathy	OMIM:616647
Renpenning Syndrome	Skeletal muscle atrophy, Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, Growth d...	ORPHA:3242
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Mitochondrial Complex I Deficiency, Nuclear Type 25	Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies, Encephalopathy	OMIM:618246
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Optic atrophy, Upp...	OMIM:617087
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Hyperlordosis, Cryptorchidism, Myopathy, EEG abnormalit...	ORPHA:408
Developmental And Epileptic Encephalopathy 71	Cheyne-Stokes respiration, Respiratory insufficiency, Epileptic encephalopathy, Respiratory failu...	OMIM:618328
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc...	OMIM:609311
Diencephalic Syndrome	Cachexia, Long penis, Optic atrophy, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p...	ORPHA:431329
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Decreased nerve conduction velocity, Upper limb muscle weakness, Scolios...	OMIM:615284
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Respiratory insufficiency	OMIM:215550
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Respirato...	OMIM:300717
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul...	ORPHA:168563
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Spastic Paraplegia Type 7	Cerebellar atrophy, Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscl...	ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s...	OMIM:607706
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hepatomegaly, Respiratory distress, Cardiac arrest, Basal ganglia gliosis, De...	OMIM:604377
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy, Scoliosis	ORPHA:1188
Ataxia-Telangiectasia	Skeletal muscle atrophy, Abnormality of chromosome stability, Failure to thrive, Short stature, D...	ORPHA:100
Bardet-Biedl Syndrome 16	Respiratory distress, Short stature, External genital hypoplasia, Obesity, Hypogonadism	OMIM:615993
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Rhi...	ORPHA:93476
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Decreased activity of mitochondrial ATP synthase complex, Apnea, Encephalopathy	OMIM:615228
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor...	ORPHA:486815
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Abnormality of the mitochond...	ORPHA:91130
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re...	ORPHA:238329
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Winchester Syndrome	Corneal opacity	OMIM:277950
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilate...	OMIM:614299
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Distal amyotrophy,...	OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,...	OMIM:613287
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, ST segm...	ORPHA:263297
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Gliosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Encephalopathy	OMIM:615119
Rett Syndrome	Skeletal muscle atrophy, Short stature, Apnea, Cachexia, Intermittent hyperventilation, Kyphosis,...	OMIM:312750
Borjeson-Forssman-Lehmann Syndrome	Short stature, Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, EEG abnormality, Sc...	OMIM:301900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Hypogonadotropic hypog...	OMIM:604168
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Respiratory insufficiency, Upper limb muscle weakness,...	OMIM:605253
Gordon Syndrome	Decreased muscle mass, Short stature, Camptodactyly of finger, Cryptorchidism, Scoliosis	ORPHA:376
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do...	OMIM:302801
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration	ORPHA:868
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction velocity	ORPHA:99014
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu...	ORPHA:36382
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Respiratory insufficiency due to muscle weakn...	ORPHA:352447
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postnatal growth retardation,...	OMIM:615419
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of peripheral nerve cond...	ORPHA:101001
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g...	OMIM:275400
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Short stature, Facial palsy, Reduced vital capacity, Sp...	OMIM:602771
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Cerebral a...	OMIM:616801
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism, Micropenis	ORPHA:85274
Cednik Syndrome	Short stature, Optic atrophy, Hypogonadism, Pachygyria, Polymicrogyria, Abnormality of peripheral...	ORPHA:66631
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Short stature, Postnatal growth retardation, Splen...	OMIM:620210
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ...	ORPHA:100998
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Cryptorchi...	OMIM:611890
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Cerebral cortical atrophy, Abnormal mitochondrial morphology	OMIM:300438
Intellectual Developmental Disorder, X-Linked 82	EEG abnormality, Kyphosis, Scoliosis	OMIM:300518
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis	OMIM:615376
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do...	OMIM:607678
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Neonatal respiratory distress, Decreased activity of mitochondrial compl...	OMIM:245400
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop...	ORPHA:83469
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro...	ORPHA:254875
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Respiratory in...	ORPHA:178148
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Fo...	OMIM:302802
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:618654
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Severe short stature, Flexion contracture, Cerebral at...	OMIM:619851
Idiopathic Bronchiectasis	Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys...	ORPHA:60033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Pachygyria, Vertebral fusion, Facial palsy, Hyperlord...	OMIM:606612
Hyperekplexia 4	Flexion contracture, Cerebral atrophy, Respiratory failure, Distal arthrogryposis, Camptodactyly,...	OMIM:618011
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp...	OMIM:606595
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly	ORPHA:2576
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Familial Infantile Bilateral Striatal Necrosis	Astrocytosis, Upper limb muscle weakness, Atrophy/Degeneration involving the caudate nucleus, Bas...	ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Axonal degeneration, Paradoxical respiration, Plan...	OMIM:620011
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fiber...	ORPHA:477774
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h...	ORPHA:101081
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Cachexia, Arthrogryposis multiplex congenita, Neuronal...	ORPHA:85278
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Hand muscle atrophy, Toe extensor amyotrophy, Pelvic g...	ORPHA:98856
Mitochondrial Complex I Deficiency, Nuclear Type 8	Decreased activity of mitochondrial complex I, Pancreatitis, Respiratory insufficiency, Encephalo...	OMIM:618230
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis	OMIM:600795
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Cerebral degeneration, Necrotizing encephalopathy	OMIM:260970
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Proximal musc...	OMIM:616687
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia, Encephalopathy	OMIM:610329
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ...	ORPHA:50251
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Cerebral a...	OMIM:606054
Mirage Syndrome	Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Short stature, Adrenal hypopl...	OMIM:617053
Inherited Creutzfeldt-Jakob Disease	Astrocytosis, Central nervous system degeneration, Stroke-like episode, Senile plaques, Neuronal ...	ORPHA:282166
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Decreased nerve conduction velocity, Thrombocytopenia, Acute my...	OMIM:159550
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Congenital muscular dystrophy, Abnormality of ...	ORPHA:1875
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Distal amyotrophy, Decreased nerve conduction velocity...	OMIM:601098
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b...	ORPHA:169805
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive...	OMIM:619824
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe...	OMIM:301082
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hypoglycemic encephalopathy, Cardiomyopathy, Myopathy, Hepatic steatosis	ORPHA:26792
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ...	OMIM:618186
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Upper limb muscle weakness, EMG: myopathic abnormalities, Di...	ORPHA:99939
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Lumbar hyperlordosis, Abnormal macrophage morphology, Calf muscle pseudohypertr...	ORPHA:353
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv...	ORPHA:65684
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic han...	ORPHA:3115
Microcephaly 16, Primary, Autosomal Recessive	Short stature, Cryptorchidism, Simplified gyral pattern, Knee flexion contracture, Decreased body...	OMIM:616681
Intellectual Developmental Disorder, Autosomal Dominant 46	Brain atrophy, Epileptic encephalopathy	OMIM:617601
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Pulmonary Blastoma	Cough, Dyspnea, Recurrent pneumonia, Weight loss	ORPHA:64741
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Lower limb muscle weakness, Distal lower limb amyotrophy, Th...	ORPHA:352675
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Intrauterine growth retardation, Fa...	ORPHA:261483
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Distal amyotrophy, Limb muscle weakness, Foot dorsifle...	OMIM:600361
Childhood-Onset Nemaline Myopathy	Scapular winging, Reduced vital capacity, Spinal rigidity, Respiratory insufficiency due to muscl...	ORPHA:171439
Perching Syndrome	Respiratory distress, Joint contracture, Scoliosis, Camptodactyly	OMIM:617055
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb muscle weakness, Distal amy...	OMIM:605588
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Ankle flexion contracture, Splenomegaly, Patent ductus arteri...	OMIM:608799
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira...	ORPHA:258
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Flexion contracture,...	OMIM:603511
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy,...	OMIM:615084
Multiple Mitochondrial Dysfunctions Syndrome 3	Cerebral atrophy, Decreased activity of mitochondrial complex II, Respiratory insufficiency, Resp...	OMIM:615330
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Bradycardia, Left ventricular hy...	OMIM:614654
Inclusion Body Myopathy And Brain White Matter Abnormalities	Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske...	OMIM:619733
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Sinusitis, Absence of lymph node germinal center, Increased circulating IgE level, R...	ORPHA:277
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Atrophy/Degeneration affecting the brainstem, Abnormal nerve con...	OMIM:619862
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short stature, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obes...	ORPHA:85293
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Respiratory insufficiency, Scoliosis	ORPHA:640
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ...	OMIM:227500
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con...	ORPHA:75840
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy	OMIM:605589
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Cryptorchidism, Scoliosis, Arthrogryposi...	ORPHA:319332
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Subcutaneous hemorrhage, Pneumo...	ORPHA:238459
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Neuronal loss in central nervous system, Cerebral atrophy, Encephalopathy	OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Facial palsy, Distal amyotrophy, Limb muscle weakness,...	OMIM:118210
Severe Neonatal-Onset Encephalopathy With Microcephaly	Respiratory insufficiency, Apnea, Cerebral atrophy, Encephalopathy	ORPHA:209370
Stuve-Wiedemann Syndrome 2	Respiratory distress, Pulmonary arterial hypertension, Scoliosis, Camptodactyly, Intrauterine gro...	OMIM:619751
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Stroke, Ischemi...	OMIM:182410
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume, Dystonia	OMIM:277410
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle atrophy, Scoliosis, Skeletal muscle hypertrophy	ORPHA:101082
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Acute pancreatitis, Scapular winging, Hepatomegaly, Congestive heart fai...	ORPHA:26791
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Crypto...	OMIM:619542
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic...	OMIM:245200
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Encephalopathy	OMIM:604218
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ...	ORPHA:101097
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra...	ORPHA:77297
Aspergillosis	Sinusitis, Eosinophilia, Pneumonia, Cough, Dyspnea, Asthma, Increased circulating IgE level, Chro...	ORPHA:1163
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis mult...	OMIM:618393
Developmental And Epileptic Encephalopathy 14	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Epileptic encephalop...	OMIM:614959
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc...	ORPHA:824
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Short stature, Cachexia	ORPHA:1933
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Small scrot...	OMIM:615663
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Centrally nucleated ...	OMIM:300219
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Re...	ORPHA:98755
Sialidosis Type 1	Skeletal muscle atrophy, Short stature, Decreased nerve conduction velocity, Kyphosis, Splenomega...	ORPHA:812
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Immunodeficiency 54	Chromosome breakage, Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Res...	OMIM:609981
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Cerebral atrophy, Respiratory insufficiency, Joint contracture, Hypertrophic cardiomyopath...	OMIM:614462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con...	ORPHA:371364
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive, Hypospadias, Scoliosis	OMIM:300934
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	OMIM:619026
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge...	OMIM:615542
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Sco...	OMIM:605285
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Hand muscle weakness, Motor conduction block, Abnormal nerve...	ORPHA:2932
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Flexion contracture, Hypsarrhythmia, Scoliosis, Cerebral cortical atrophy	OMIM:618298
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In...	ORPHA:171442
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Developmental And Epileptic Encephalopathy 60	Global brain atrophy, Epileptic encephalopathy	OMIM:617929
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Thenar muscle atrophy	OMIM:620111
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital cap...	ORPHA:329478
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Respiratory insufficiency, Encephalopathy	OMIM:618224
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocyto...	OMIM:619164
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve...	OMIM:218000
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Fiber type grouping, Encephalopathy, Epileptic encephalopathy, Distal amyotro...	OMIM:271245
Arthrogryposis, Distal, Type 1C	Hip contracture, Short stature, Shoulder flexion contracture, Camptodactyly of finger, Short neck...	OMIM:619110
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay...	ORPHA:75233
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Joint contracture, Respiratory insufficiency, Epileptic encephalopathy	OMIM:618324
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hypospadias, Short stature, Cryptorchidism, Kyphosis, Simplified gy...	OMIM:300354
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Decreased nerve conducti...	ORPHA:2928
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten...	OMIM:615290
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Reduced forced vital capacity, Z-band str...	OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Skel...	OMIM:613156
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Tachypnea, Cerebral atrophy, Coarctation of aorta, Norm...	OMIM:614857
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Aredyld Syndrome	Hepatomegaly, Short stature, Cachexia, Splenomegaly, Type II diabetes mellitus, Scoliosis, Type I...	ORPHA:1133
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo...	OMIM:619897
Pontocerebellar Hypoplasia, Type 4	Infantile encephalopathy, Congenital contracture, Gliosis, Respiratory failure	OMIM:225753
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Proximal amyo...	OMIM:617404
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop...	OMIM:618815
Congenital Myopathy 14	Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El...	OMIM:618414
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent...	OMIM:616852
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia, Encephalopathy	OMIM:610090
Developmental And Epileptic Encephalopathy 69	Corpus callosum atrophy, Epileptic encephalopathy, Congenital contracture, Arthrogryposis multipl...	OMIM:618285
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Immunodeficiency 44	Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level,...	OMIM:616636
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Kyphosis, Optic atrophy, Respiratory insuf...	ORPHA:702
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hyper...	ORPHA:319514
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atroph...	OMIM:615512
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Decreased compound muscl...	OMIM:600882
Alexander Disease Type I	Cerebellar atrophy, Cachexia, Failure to thrive, Scoliosis	ORPHA:363717
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myopathy, Increased variability...	OMIM:616816
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes	ORPHA:3055
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Tachypnea, Cerebral atrophy, Decreased activity of mitochondrial complex III,...	OMIM:615838
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator...	OMIM:254090
Developmental And Epileptic Encephalopathy 11	Global brain atrophy, Epileptic encephalopathy	OMIM:613721
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Corpus callosum atrophy, ...	ORPHA:565624
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal form of the vertebra...	ORPHA:93941
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, E...	OMIM:604317
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cachexia, Myopathy, Distal arthrogryposis, Hepatic steatos...	ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Cryptorchidism, Abnormality of mitochondrial metabolism, Respiratory insufficien...	ORPHA:88639
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Astrocytosis	ORPHA:275864
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism,...	ORPHA:3085
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Decreased activity of mitochondrial ATP synthase complex, Ankle flexion contracture, Rhabdomyolys...	OMIM:618120
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal arthrogryp...	OMIM:611228
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hepatomegaly, Apne...	ORPHA:79330
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Anemia	ORPHA:2598
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Central apnea, Encephalopathy	ORPHA:71277
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage, Neutropenia,...	OMIM:603585
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension...	ORPHA:1349
Wild Type Abeta2M Amyloidosis	Abnormal intervertebral disk morphology, Decreased nerve conduction velocity, Abnormality of the ...	ORPHA:85446
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Myasthenic Syndrome, Congenital, 14	Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg...	ORPHA:1328
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Cerebral atrophy, Encephalopathy	ORPHA:306550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac...	OMIM:253700
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Kypho...	OMIM:214150
Tularemia	Respiratory distress, Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervic...	ORPHA:3392
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea...	OMIM:613641
3-Methylglutaconic Aciduria Type 9	Decreased activity of mitochondrial ATP synthase complex, Cerebral atrophy, Encephalopathy	ORPHA:505216
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema...	ORPHA:79
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Distal amyotrophy	OMIM:608895
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Lymphadenopathy, Abnormal s...	ORPHA:142
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Skeletal muscle atrophy, Growth delay	OMIM:614932
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Congestive heart failure, Microvesicular hepatic steatosis, C...	OMIM:212140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cardiomyopathy, Stroke, Neutr...	ORPHA:79312
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Respiratory insufficiency, Epileptic encephalopathy, Bradycardia, Hyper...	OMIM:616276
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Encephalopathy	OMIM:618960
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Infantile encephalopathy, Respiratory insufficiency	ORPHA:263410
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Distal amyotrophy	OMIM:610100
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,...	ORPHA:70588
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Respiratory distress, Corpus callosum atrophy, Cereb...	OMIM:619272
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v...	ORPHA:2926
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Reduced for...	OMIM:617066
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization	Acute encephalopathy	OMIM:618113
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Paraparesis, Intracranial hemorrhage, Stroke	ORPHA:140989
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Cerebral atrophy, Camptodactyly	OMIM:618453
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration	OMIM:610951
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor...	ORPHA:99953
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria	ORPHA:171703
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight l...	OMIM:209950
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Astrocytosis	OMIM:611087
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr...	ORPHA:85212
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,...	ORPHA:169079
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, D...	ORPHA:300605
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Short neck, Cryptorchidism, Optic atrophy, Arthrogryposis multiplex congenita, Frontal cortical a...	OMIM:618766
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly, Encephalopathy	OMIM:614741
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidism, Optic...	OMIM:619310
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut...	ORPHA:217346
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Whipple Disease	Hepatomegaly, Myositis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Respiratory insuffic...	ORPHA:3452
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Short stature, Centr...	OMIM:248800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Short stature, Motheaten muscle fibers, Muscular dystrophy, Increa...	OMIM:226670
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Respiratory insufficiency,...	OMIM:160565
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, 4-layered lissencephaly, Abnormality of neuronal migrat...	ORPHA:89844
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi...	ORPHA:101085
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb amyotrophy, Distal lower li...	ORPHA:99950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Increased mitochondrial number, Macrocytic anemia, Decreased activity of...	OMIM:615578
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophilia, Short st...	ORPHA:353298
N Syndrome	Cryptorchidism, Abnormality of chromosome stability, Hypospadias, Leukemia	OMIM:310465
Intellectual Developmental Disorder, Autosomal Dominant 5	Congenital muscular torticollis, Torticollis, Brain atrophy, Epileptic encephalopathy	OMIM:612621
Developmental And Epileptic Encephalopathy 45	Epileptic encephalopathy	OMIM:617153
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Neutropenia, Hypothyroidism, Hyperthyroid...	ORPHA:37042
3-Methylglutaconic Aciduria, Type V	Hypospadias, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Opti...	OMIM:610198
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Distal amyotrophy, Decreased distal sensory nerve action potential, Hepatic steatosis, Foot dorsi...	OMIM:618400
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef...	ORPHA:45452
Combined Oxidative Phosphorylation Deficiency 57	Apnea, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Central hypoventilation, De...	OMIM:620167
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Brain atrophy, Intrauterine growt...	OMIM:615966
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
1Q21.1 Microduplication Syndrome	Cryptorchidism, Arthrogryposis multiplex congenita, Failure to thrive, Hypospadias	ORPHA:250994
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Decreased cir...	ORPHA:859
Developmental And Epileptic Encephalopathy 7	Epileptic encephalopathy	OMIM:613720
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Card...	ORPHA:99828
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Foot d...	OMIM:214500
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:183050
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Respiratory distress, Dilated cardiomyopathy, Arrhythmia, Hyper...	ORPHA:254913
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Hypertension,...	OMIM:618886
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Stroke, Decre...	OMIM:611126
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Reduced forced vital capa...	OMIM:620249
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Corneal arcus	OMIM:245900
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Azoospermia, Torticollis, Hypergonadotropic hypogonadism	OMIM:613724
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Apnea, Flexion contracture, Bradycardia, Brain atrophy, Camptodact...	OMIM:610015
Crigler-Najjar Syndrome, Type I	Jaundice, Encephalopathy	OMIM:218800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Decreased ac...	OMIM:618253
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Cach Syndrome	Cerebellar atrophy, Flexion contracture, Cerebral atrophy, Hepatosplenomegaly, Atrophy/Degenerati...	ORPHA:135
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Centrally nucleated skeletal muscle fibers, Decreased nerve conduc...	OMIM:606070
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ...	ORPHA:79083
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, C...	OMIM:616005
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia...	ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary t...	OMIM:601457
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly	ORPHA:796
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c...	ORPHA:100070
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Gro...	ORPHA:85282
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil...	ORPHA:400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Decr...	OMIM:615471
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomega...	ORPHA:464329
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Warburg Micro Syndrome 1	Short stature, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Perisylvian polymicro...	OMIM:600118
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Type 2 muscle fiber predominance, Encephalopathy	OMIM:619028
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Decreased activity of mi...	OMIM:251880
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Mild postnatal growth retardation, Hypothyroidism, Hep...	ORPHA:456312
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne...	ORPHA:36238
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rhabdomyolysis, ...	ORPHA:454836
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Short stature, Splenomegaly, Kyphosis, Flexion contracture...	ORPHA:87876
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Respiratory distress, Apnea, Frontotemporal cerebral atrophy, Encephalopathy	ORPHA:79097
Spinocerebellar Ataxia 48	Cerebellar atrophy, Cachexia	OMIM:618093
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle...	ORPHA:52430
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Apnea, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Cerebral atrophy, ...	OMIM:619797
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size, Scoliosis	ORPHA:85287
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, C...	ORPHA:206436
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Short neck, Wrist flexion contracture, Abnormally ossified verteb...	ORPHA:800
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar...	ORPHA:3260
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Increased circulating IgE lev...	OMIM:243700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du...	OMIM:618291
Aminoacylase 1 Deficiency	Cerebellar atrophy, Cerebral atrophy, Acute encephalopathy, Bradycardia, Cerebral cortical atrophy	OMIM:609924
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Encephalopathy	ORPHA:1171
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive hear...	ORPHA:367
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Facial palsy, Increas...	OMIM:617114
Coffin-Siris Syndrome 8	Cryptorchidism, Failure to thrive, Scoliosis, Cerebral atrophy	OMIM:618362
Developmental And Epileptic Encephalopathy 107	Epileptic encephalopathy	OMIM:620033
Developmental And Epileptic Encephalopathy 97	Epileptic encephalopathy	OMIM:619561
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti...	ORPHA:124
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Abnormality of thyroid physiology, Congestiv...	ORPHA:1830
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp...	OMIM:618108
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis	OMIM:180800
Systemic Primary Carnitine Deficiency	Hepatomegaly, Acute encephalopathy	ORPHA:158
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi...	ORPHA:90065
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Recurrent pneumonia, Hepatosplenomegaly, Hepatic encephalopathy, Mono...	OMIM:619644
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cryp...	OMIM:618578
Episodic Ataxia, Type 9	Encephalopathy	OMIM:618924
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Intrinsic hand muscle atrophy, Distal amyotrophy, Wris...	OMIM:616688
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Hepatomegaly	ORPHA:2930
Developmental And Epileptic Encephalopathy 62	Epileptic encephalopathy	OMIM:617938
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Increased...	ORPHA:100083
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Kyphosis, Small for gestational age, Short stature	ORPHA:85288
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Respiratory failure, Decreased activity of mitochondrial complex ...	OMIM:618233
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ...	OMIM:605637
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Dyspnea, Abnormality on pulmonar...	ORPHA:133
Malaria	Anemia, Respiratory distress, Thrombocytopenia	ORPHA:673
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus...	OMIM:620265
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes...	OMIM:118220
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of thyroid physiology...	ORPHA:167635
Developmental And Epileptic Encephalopathy 58	Epileptic encephalopathy	OMIM:617830
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Kyphoscoliosis, Axonal degeneration, Distal amyotrophy...	OMIM:214400
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Astigmatism, Thrombocytopenia	ORPHA:261250
Congenital Rubella Syndrome	Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia	ORPHA:290
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular...	OMIM:160900
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Epileptic encephalopathy	ORPHA:352596
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Abnormal cortica...	OMIM:616867
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Trisomy 4P	Hypospadias, Camptodactyly of finger, Short stature, Short neck, Cryptorchidism, Scoliosis	ORPHA:1738
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp...	OMIM:247800
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Cerebral cortical atrophy	ORPHA:1568
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te...	ORPHA:481
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Caudate atrophy, Cerebral atrophy, Hypertension, Myopathy, Respiratory failure, Cir...	ORPHA:363400
Ravine Syndrome	Progressive encephalopathy, Apnea, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ...	OMIM:270685
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Encephalopathy	OMIM:246900
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,...	ORPHA:59
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Primary Non-Essential Cutis Verticis Gyrata	Gliosis, Encephalopathy	ORPHA:357225
Nijmegen Breakage Syndrome	Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Skeletal musc...	ORPHA:647
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Short neck, Thrombocytopenia, Splenomegaly, Flexion contractu...	OMIM:617303
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Hepatomegaly, Hypoventilation, Microvesicular hepatic steatosis, Micronodular...	OMIM:203700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Amyotrophic lateral sclerosis, ...	OMIM:613954
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl...	ORPHA:64743
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Short stature, Cryptorchidism, Kyphosis, Congenital contracture, Joint...	ORPHA:352490
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Optic atrophy, Growth delay, Anemia, Neutropenia, Pancreatiti...	ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Developmental And Epileptic Encephalopathy 16	Cerebral atrophy, Epileptic encephalopathy	OMIM:615338
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of...	ORPHA:40
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Failure to thrive, Polymicrogyria, Respiratory distress	OMIM:616974
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Intrauterine growth retardation, Decreased cir...	OMIM:620005
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis	OMIM:607831
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Diethylstilbestrol Syndrome	Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestatio...	ORPHA:1916
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl...	OMIM:620278
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Hepatic steatosis, Pneumothorax, Cerebral atrophy, Cardiomyopathy, Respirator...	ORPHA:445038
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ...	OMIM:118300
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insuffi...	ORPHA:159
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Respiratory distress, Small scrotum, Hypospadias, Small for gest...	OMIM:607143
Developmental And Epileptic Encephalopathy 15	Epileptic encephalopathy	OMIM:615006
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropeni...	OMIM:251000
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Neonatal respiratory distress, Decreased nerve conduction velocity, Respirato...	OMIM:618356
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Cerebral atrophy, Scoliosis	OMIM:616756
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Resp...	OMIM:232300
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,...	ORPHA:178320
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In...	OMIM:602541
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,...	ORPHA:49566
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Mitochondrial Complex I Deficiency, Nuclear Type 9	Decreased activity of mitochondrial complex I, Hypoventilation, Breathing dysregulation, Encephal...	OMIM:618232
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Decreased circulating IgG level, Hypothyroidism, Autoimmune thromboc...	OMIM:614700
Optic Atrophy 11	Short stature, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, EEG with focal sharp waves, F...	OMIM:617302
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Stroke, Cerebral ischemia, Encephalopathy	ORPHA:927
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Limb-girdle muscle weakness, ...	ORPHA:171436
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber...	ORPHA:2348
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficiency, Verteb...	ORPHA:1166
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w...	ORPHA:466768
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy...	OMIM:614895
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Aganglionic megacolon, Cachexia, Short neck	ORPHA:1438
Developmental And Epileptic Encephalopathy 61	Apnea, Cerebral atrophy, Epileptic encephalopathy	OMIM:617933
Pseudo-Torch Syndrome 2	Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Patent ductus ...	OMIM:617397
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal...	OMIM:612999
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Respiratory insufficiency, Encephalopathy	OMIM:617668
Combined Oxidative Phosphorylation Deficiency 35	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ce...	OMIM:617873
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Decreased plasma free carnitine, Cerebral atrophy, Encephalopathy	OMIM:616034
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Short stature, Facial myokymia	OMIM:620007
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Hyperlordosis, Cryptorchidism, Type I diabetes mellitus, Cerebral cortical atrophy...	ORPHA:1192
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Scoliosis, Decrease...	OMIM:145900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscl...	OMIM:258450
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre...	OMIM:606071
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Cerebral cortical atrophy, Epileptic encephalopathy	OMIM:617820
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retard...	OMIM:612626
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes...	OMIM:118200
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Short stature, Kyphosis, Platyspondyly, Scolio...	OMIM:230650
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Glycine Encephalopathy 1	Encephalopathy	OMIM:605899
Stxbp1-Related Encephalopathy	Epileptic encephalopathy	ORPHA:599373
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Dyspnea,...	OMIM:255125
Acromicric Dysplasia	Decreased nerve conduction velocity, Severe short stature, Ovoid vertebral bodies	ORPHA:969
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis...	ORPHA:3409
Idiopathic Achalasia	Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Kyphosco...	OMIM:604563
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni...	OMIM:614172
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG...	ORPHA:284227
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration, Foot dorsiflex...	OMIM:614436
Moebius Syndrome	Respiratory distress, Hypogonadotropic hypogonadism, Short neck, Facial diplegia, Congenital fibr...	OMIM:157900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ...	OMIM:300845
X-Linked Neurodegenerative Syndrome, Bertini Type	Epileptic encephalopathy	ORPHA:85334
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Small for gestational ag...	OMIM:260400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Increased va...	ORPHA:397744
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ...	ORPHA:264675
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Resp...	ORPHA:79329
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Global brain atrophy, Encephalopathy	OMIM:614458
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Developmental And Epileptic Encephalopathy 53	Epileptic encephalopathy	OMIM:617389
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, Encephalopathy	OMIM:617268
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased proportion of naive T ...	ORPHA:276
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Short stature, Failure to thrive in infancy, Incr...	OMIM:619065
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity, Dystonia	OMIM:617183
Wilson Disease	Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increased bo...	ORPHA:905
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Optic atrophy, Congenital contracture, Scoli...	OMIM:615042
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Hand muscle weakness	OMIM:162500
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor we...	OMIM:618124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:607250
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Decreased activity of mi...	OMIM:610505
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Decreased activity of mitochondrial respiratory chain, Microcytic anemia...	OMIM:612073
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ...	ORPHA:2902
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Short stature	ORPHA:1368
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,...	ORPHA:438134
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Rhabdomyolysis, Stroke-like episode, Hematochezia, Cholestatic liver diseas...	ORPHA:79095
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hern...	ORPHA:94065
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Respiratory insufficiency,...	OMIM:617193
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:601455
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hepatomegaly, Foot joint contracture, Postnatal growth retar...	ORPHA:90321
Hurler Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Abnormality of the tonsils, Short neck, Spl...	ORPHA:93473
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Autosomal Recessive Spastic Paraplegia Type 25	Abnormal lumbar spine morphology, Herniation of intervertebral nuclei, Cervical spondylosis, Abno...	ORPHA:101005
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Cerebellar atrophy, Respiratory distress, Flexion contracture, EEG wi...	ORPHA:544503
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea...	OMIM:115197
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem...	ORPHA:335
Lennox-Gastaut Syndrome	Encephalopathy	ORPHA:2382
Filippi Syndrome	Cerebellar atrophy, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Decreased body w...	OMIM:272440
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Failure to...	ORPHA:1703
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Mitochondrial hypertro...	OMIM:619518
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficien...	OMIM:313420
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Hepatomegaly, External genital hypoplasia, EEG with burst suppression, Opti...	ORPHA:329178
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:163976
Temple Syndrome	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	OMIM:616222
Tuberculosis	Cough, Weight loss	ORPHA:3389
Hsd10 Disease	Frontotemporal cerebral atrophy, Nonprogressive encephalopathy, Spastic paraparesis	ORPHA:391417
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa...	ORPHA:563
Spinocerebellar Ataxia, Autosomal Recessive 31	Cerebral atrophy, Encephalopathy	OMIM:619422
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Leukoencephalopathy With Calcifications And Cysts	Cerebral atrophy, Stroke, Cerebral hemorrhage	ORPHA:542310
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Increased circulating IgG...	ORPHA:99827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B...	OMIM:614069
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency	OMIM:610773
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Severe short stature, Cachexia, Optic atrophy, Defective DNA rep...	OMIM:610965
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Growth delay, T lymphocytopenia, D...	OMIM:619510
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo...	ORPHA:98855
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Dpm1-Cdg	Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Hepatosplenomegaly, Knee flexion contracture,...	ORPHA:79322
Dystonia 31	Abnormal posturing	OMIM:619565
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo...	OMIM:271530
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility	OMIM:313200
Carpenter Syndrome	External genital hypoplasia, Kyphoscoliosis, Abnormal reproductive system morphology, Cryptorchid...	ORPHA:65759
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Kyphosis, Flexion contracture, Obesi...	OMIM:615547
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracrani...	ORPHA:404
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Hypoparathyroidism, Cerebellar atrophy, Spinal muscular atrophy, Progressive spastic paraparesis,...	ORPHA:496756
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ...	OMIM:194350
Developmental And Epileptic Encephalopathy 73	Flexion contracture, Epileptic encephalopathy	OMIM:618379
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Peho-Like Syndrome	Cerebellar atrophy, Infantile encephalopathy	OMIM:617507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Tetrasomy 12P	Short stature, Cachexia, Short neck	ORPHA:884
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili...	OMIM:616470
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep...	OMIM:615595
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote...	OMIM:235200
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Knee flex...	OMIM:618733
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Hepatomegaly, Cryptorchidism, Contractures of th...	ORPHA:191
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Dexamethasone-suppressible...	ORPHA:403
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Short neck, Thrombocytopenia, Patent ductus arteriosu...	ORPHA:505248
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,...	OMIM:618165
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Cerebellar atrophy, Hand...	OMIM:302800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture, Cerebral cortical atrophy, Encephalopathy	OMIM:618201
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent...	OMIM:617072
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lym...	ORPHA:99867
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen,...	ORPHA:2072
Patent Ductus Venosus	Hepatic encephalopathy, Hepatic steatosis, Persistent patent ductus venosus, Congenital portosyst...	OMIM:601466
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Raynaud-Claes Syndrome	Cerebral cortical atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:300114
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:619279
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Bradypnea, Respiratory failure, Abnormal activity of mitochondrial respiratory chain...	OMIM:617186
Cdkl5-Deficiency Disorder	Kyphosis, Abnormal respiratory system physiology, Multifocal epileptiform discharges, Growth dela...	ORPHA:505652
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased muscle mass, Axonal degeneration, Intrinsic ...	OMIM:615490
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:616981
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Diabetes ...	ORPHA:465508
Developmental And Epileptic Encephalopathy 59	Epileptic encephalopathy	OMIM:617904
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Developmental And Epileptic Encephalopathy 40	Cerebral cortical atrophy, Epileptic encephalopathy	OMIM:617065
Developmental And Epileptic Encephalopathy 23	Epileptic encephalopathy, Supravalvular aortic stenosis	OMIM:615859
Wagr Syndrome	Short stature, Cryptorchidism, Obesity, Scoliosis, Ambiguous genitalia, Displacement of the ureth...	ORPHA:893
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Cardiac conduction abnormality, Hypothyroidis...	ORPHA:550
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, Hepatic encephalopathy, Cirrhos...	OMIM:619902
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Cryptorchidism, Kyphosis, EEG abnormality, Vertebral segmentation defect, S...	ORPHA:2617
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrh...	ORPHA:340
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, Congenital diaphra...	ORPHA:2311
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Elbow contracture, Small for gestational age, Short stature, Postnatal...	OMIM:616489
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Hepatomegaly, Short stature, Abnormal auditory evoked potent...	OMIM:216400
Mucopolysaccharidosis, Type Ii	Papilledema, Hepatomegaly, Severe short stature, Short stature, Short neck, Splenomegaly, Kyphosi...	OMIM:309900
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Interface hepatitis, Encephalopathy	OMIM:611182
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Progressive encephalopathy, Cerebral atrophy, Spastic paraparesis	ORPHA:329284
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo...	ORPHA:464453
Developmental And Epileptic Encephalopathy 12	Epileptic encephalopathy	OMIM:613722
Kaposi Sarcoma	Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormality of the ...	ORPHA:33276
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Diffuse cerebral...	ORPHA:83617
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, EEG with burst suppression, Hypsarrhythmia, Lissencephaly, Scoliosis, Pachygyria,...	OMIM:620316
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Distal amyotrophy	OMIM:607734
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Growth...	OMIM:608800
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ...	OMIM:253220
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe shor...	OMIM:616482
Rhabdoid Tumor	Respiratory insufficiency, Lymphadenopathy, Anemia, Hypertension, Neoplasm of the liver, Internal...	ORPHA:69077
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch...	ORPHA:753
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Respiratory insufficiency, Encephalopathy	OMIM:300673
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatos...	ORPHA:169160
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Cou...	ORPHA:90068
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Anemia	OMIM:620135
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Respiratory insufficiency, Macroglossia, Brain atrophy, Encephalopathy	OMIM:616900
Freeman-Sheldon Syndrome	Short stature, Camptodactyly of finger, Cryptorchidism, Growth delay, Scoliosis, Failure to thrive	ORPHA:2053
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Gliosis, ...	OMIM:618321
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Short neck, Cryptorchidism, Flexion contracture, F...	ORPHA:98791
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis	ORPHA:37612
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir...	ORPHA:98915
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Asthma, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Recurre...	ORPHA:217390
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Decreased respons...	OMIM:245590
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Short neck, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Camptoda...	OMIM:608104
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n...	OMIM:169400
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:261102
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hypoglycemic encephalopathy, Rhabdomyolysis, Cardiomyopathy, Decreased plasma total...	ORPHA:228305
Developmental And Epileptic Encephalopathy 31A	Diffuse cerebral atrophy, Epileptic encephalopathy	OMIM:616346
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Nonprogressive encephalopathy, Cerebral atrophy, Abnormality of mitocho...	ORPHA:391428
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Pneumonia, Encephalopathy	OMIM:608033
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Central apnea, Paraparesis, Cerebral atrophy, Decrea...	OMIM:615157
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity	OMIM:615982
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous...	ORPHA:363705
Hepatic Veno-Occlusive Disease	Hepatic encephalopathy, Hepatomegaly, Jaundice, Respiratory failure	ORPHA:890
Retinitis Pigmentosa 59	Hepatomegaly, Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive	OMIM:613861
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop...	OMIM:612674
Huntington Disease-Like 1	Cerebellar atrophy, Abnormal posturing, Gliosis, Cerebral cortical atrophy	ORPHA:157941
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98754
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Growth ...	OMIM:179613
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Asthma, Increased circulating IgE level, Recurrent pneumonia, Br...	OMIM:619752
Diaminopentanuria	Neurodegeneration	OMIM:222350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Small for gestational age, Short stature, Decreased body weight	OMIM:618392
Syndromic Recessive X-Linked Ichthyosis	Short stature, Cryptorchidism, Acute leukemia, Hypogonadism, Lissencephaly, Testicular seminoma	ORPHA:281090
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Episodic hyperhidrosis, Palpitations, Positive reg...	ORPHA:94080
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, C...	OMIM:603467
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,...	OMIM:105650
Developmental And Epileptic Encephalopathy 96	Neonatal respiratory distress, Epileptic encephalopathy	OMIM:619340
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Respiratory distress, Rhizomelia, Flexion contracture, Recurrent pneumonia, C...	OMIM:616271
Aarskog-Scott Syndrome	Short stature, Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidi...	OMIM:305400
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Abnormal cardiac ventricular function, Hepatic encephalopathy, Cardiomyopathy, Decr...	ORPHA:2394
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hepatosplenomegaly,...	ORPHA:167
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventric...	ORPHA:369929
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Aplasia/Hypoplasia...	ORPHA:354
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Infertility, Scoliosis, Limb muscle weakness, Low...	OMIM:614409
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,...	OMIM:612541
Combined Oxidative Phosphorylation Deficiency 8	EEG abnormality, Failure to thrive, Increased variability in muscle fiber diameter	OMIM:614096
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ragged-red muscle fibers, Hypertrophi...	OMIM:607426
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h...	OMIM:614162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Lissencephaly, Abnormal mucociliary clearance	OMIM:619466
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Acute encephalopathy, Gliosis, Abnormal pattern of respiration	ORPHA:88619
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy	ORPHA:276183
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Isaacs Syndrome	Calf muscle hypertrophy, EEG abnormality, Weight loss	ORPHA:84142
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Central hypoventilation, Abnormal muscle ...	ORPHA:171881
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Periventricular Nodular Heterotopia 7	Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Thyro...	ORPHA:109
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Flexion contracture, Encephalopathy	OMIM:616281
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex...	OMIM:616672
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Thoracic scoliosis, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis...	OMIM:611209
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Granuloc...	OMIM:606164
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Alveolar Echinococcosis	Liver abscess, Cholangitis, Cough, Abnormal vertebral morphology, Portal hypertension, Abnormal m...	ORPHA:284
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98793
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Palpitations, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy...	OMIM:618250
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Short stature, Intrahepatic cholestasis with episo...	ORPHA:333
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem...	OMIM:210900
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Neonatal respiratory distress, Encephalopathy, Cerebral atrophy, Epileptic encephalopathy	OMIM:614388
Developmental And Epileptic Encephalopathy 63	Cerebral cortical atrophy, Epileptic encephalopathy	OMIM:617976
Developmental And Epileptic Encephalopathy 88	Epileptic encephalopathy	OMIM:618959
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating...	ORPHA:163971
Letterer-Siwe Disease	Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia, Encephalopathy	OMIM:246400
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Distal Duplication 15Q	Congenital muscular torticollis, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormality...	ORPHA:1707
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Short neck, Patent ductus arteriosus, Respiratory insufficiency, Weight...	ORPHA:1842
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177904
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Hepatomegaly, Dyspnea, Respiratory insufficiency, Stridor, Encephalopathy	OMIM:615182
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased nerve conduction velocity, Acute hepatitis, Failure to thrive, Cerebral c...	OMIM:238970
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Abnormal autonomic nervous syst...	ORPHA:168593
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Immunodeficiency 92	Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory...	OMIM:619652
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Congenital Enterovirus Infection	Abnormal bleeding, Respiratory distress, Abnormal macrophage morphology, Myocarditis, Leukocytosi...	ORPHA:292
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Scoliosis	OMIM:300434
D-Glyceric Aciduria	Neonatal respiratory distress, Patent ductus arteriosus, Bradycardia, Cerebral cortical atrophy, ...	OMIM:220120
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Centrally nucleated skeletal muscle f...	OMIM:613327
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight...	ORPHA:90060
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Weight loss, Growth delay, Thrombocytopenia	ORPHA:79242
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Short stature, Facial palsy, Apnea, Hyperlordosis, Short neck, Kyp...	OMIM:314580
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Splenomegaly, ...	OMIM:301072
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,...	OMIM:156530
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bro...	OMIM:300755
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177901
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Obesity, Scoliosis	ORPHA:276630
Oculopharyngodistal Myopathy 1	Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci...	OMIM:164310
Hydroxykynureninuria	Tachycardia, Breathing dysregulation, Hypotension, Progressive encephalopathy, Encephalopathy	ORPHA:79155
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Cryptorch...	OMIM:227645
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Increased muscle lipi...	OMIM:608836
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Native American Myopathy	Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal muscle fiber size...	ORPHA:168572
Trisomy 18	Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism...	ORPHA:3380
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Cerebral atrophy, Epileptic encephalopathy	OMIM:618497
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Patent duct...	OMIM:601186
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Epileptic encephalopathy, Atrophy/Degeneration affecting the brainstem	OMIM:617954
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Short neck, Cryptorchidism, Platyspondyly, Intrauterine growth retardation, Failure...	OMIM:618958
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Abnormality of the thyroid gland, Kyphosis, Sco...	ORPHA:1969
Lead Poisoning	Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy...	ORPHA:330015
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Short Stature-Wormian Bones-Dextrocardia Syndrome	Short stature, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Midshaft hyposp...	ORPHA:2863
Cataract-Intellectual Disability-Hypogonadism Syndrome	Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Scoliosis, Cerebral ...	ORPHA:1387
Diastrophic Dysplasia	Camptodactyly of finger, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Respira...	ORPHA:628
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Fatty replacement of skeletal muscle, Decreased compound muscle action potential amplitude, Dista...	OMIM:618279
Prune Belly Syndrome	Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Aplasia of the abdominal wall musc...	ORPHA:2970
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size	OMIM:615433
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neop...	ORPHA:171
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Torticollis, Metrorrhagi...	ORPHA:370348
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu...	OMIM:605309
Laurence-Moon Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Type II...	ORPHA:2377
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, Short stature, Cryptorchidism, Decreased body weight, Intrauterine growth ret...	OMIM:600325
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Hyperhidrosis, Abnormal EKG, Hepatomegaly, Intercost...	ORPHA:1329
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic encephalopathy, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-Co...	OMIM:231530
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Dys...	ORPHA:1546
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer...	OMIM:600142
Boomerang Dysplasia	Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test, Cryptorchid...	ORPHA:1263
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st...	ORPHA:275761
Presynaptic Congenital Myasthenic Syndromes	EEG with polyspike wave complexes, Neuropathic spinal arthropathy, Sudden episodic apnea, Kyphosc...	ORPHA:98914
Congenital Myasthenic Syndrome	EEG with polyspike wave complexes, Neuropathic spinal arthropathy, Sudden episodic apnea, Kyphosc...	ORPHA:590
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia, Intrauteri...	OMIM:616910
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Weight l...	ORPHA:520
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Genitopalatocardiac Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, Kyphosi...	ORPHA:2075
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Atrophy of the spinal cord, Stroke, Brain atrophy, Spastic paraparesis, Lower limb muscle ...	ORPHA:395
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen...	ORPHA:2232
Myoclonus, Intractable, Neonatal	Optic disc pallor, Apnea, Increased variability in muscle fiber diameter	OMIM:617235
Developmental And Epileptic Encephalopathy 21	Limb hypertonia, Brain atrophy, Epileptic encephalopathy	OMIM:615833
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Growth delay, Abnormal lymphat...	ORPHA:90362
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Spontaneous hematomas, Prolonged prothrombin time, A...	ORPHA:95428
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p...	ORPHA:139578
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscolios...	OMIM:114300
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Decreased muscle mass, Decreased nerve conduction velocity, Spl...	OMIM:261515
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Trunc...	ORPHA:127
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Reduced forced expiratory volume in one second, Kyphosis, R...	OMIM:108145
Developmental And Epileptic Encephalopathy 101	Apnea, Limb joint contracture, Epileptic encephalopathy, Third degree atrioventricular block, Bra...	OMIM:619814
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Hip contracture, Flexion contracture of finger, Failure to thrive, Small for ...	OMIM:193700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Failure to thrive, Follicular hyperplasia, Increased circulati...	OMIM:615934
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Optic atrophy, Increased variability in muscle fiber diameter, Abnormal auditory evoked...	OMIM:125250
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Congenital hypothyroidism, Macroglossia, Bradycardia, Prolonged neonatal ja...	ORPHA:226313
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Odontochondrodysplasia	Respiratory distress, Short stature, Patent ductus arteriosus, Platyspondyly, Scoliosis	ORPHA:166272
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Abno...	ORPHA:47
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, P...	ORPHA:464282
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:617132
Lig4 Syndrome	Hepatomegaly, Abnormality of chromosome stability, Hypoplasia of penis, Pancytopenia, Cryptorchid...	ORPHA:99812
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodacty...	ORPHA:88628
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy...	OMIM:613987
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele...	OMIM:620351
Cockayne Syndrome B	Hepatomegaly, Severe short stature, Small for gestational age, Abnormal auditory evoked potential...	OMIM:133540
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Ja...	ORPHA:20
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Short neck, Cryptorchidism, Obesity,...	ORPHA:110
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Decreased activity of mitochondrial complex IV, Brain atrophy, Left ven...	OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrop...	OMIM:220110
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Epileptic encephalopathy, Cerebral atrophy, Atrophy/Degeneration affecting th...	OMIM:617493
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Short stature, Cryptorchidism, Hypoplastic male external genitalia, Brain atrophy, Scoliosis, Int...	ORPHA:502434
Lig4 Syndrome	Pancytopenia, Small for gestational age, Cryptorchidism, Asthma, Acute lymphoblastic leukemia, Ch...	OMIM:606593
Huntington Disease-Like 2	Caudate atrophy, Cerebral cortical atrophy, Weight loss	ORPHA:98934
Hypophosphatasia, Infantile	Intracranial hemorrhage, Apnea, Anemia	OMIM:241500
Smith-Kingsmore Syndrome	Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, Perisylvian polymicrogyri...	OMIM:616638
Developmental And Epileptic Encephalopathy 1	Dyspnea, Global brain atrophy, Epileptic encephalopathy	OMIM:308350
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Cerebral atrophy, Epileptic encephalopathy, Atrophy/Degeneration affecting th...	OMIM:613477
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight loss, Bone marrow ...	ORPHA:391
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increase...	OMIM:616817
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy	OMIM:304700
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal migration, Disproportionate short-li...	ORPHA:2772
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle...	OMIM:619461
Developmental And Epileptic Encephalopathy 91	Cerebral atrophy, Epileptic encephalopathy	OMIM:617711
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Scoliosis, Delayed pub...	ORPHA:496790
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory distress, Neutrop...	ORPHA:79139
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Diabetes mellitus, Female hypogonadism, Short...	OMIM:208900
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Paraparesis, Thrombocytopenia, Respiratory insufficiency, Cardio...	ORPHA:27
Developmental And Epileptic Encephalopathy 57	Epileptic encephalopathy	OMIM:617771
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Patent duc...	OMIM:609029
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture	OMIM:618658
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Neutropeni...	OMIM:616395
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cerebellar atrophy, Short stature, Elevated hemoglobin...	OMIM:616192
Neurodegeneration With Brain Iron Accumulation 6	Distal amyotrophy, Neurodegeneration	OMIM:615643
48,Xxyy Syndrome	Hypoplasia of penis, Hypergonadotropic hypogonadism, Apnea, Cryptorchidism, Asthma, Obesity, Azoo...	ORPHA:10
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity	ORPHA:61
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Vasculitis, Cerebral atrophy, Cardiomyopathy, Prolo...	OMIM:225750
Poems Syndrome	Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Respiratory ...	ORPHA:2905
Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Developmental And Epileptic Encephalopathy 92	Epileptic encephalopathy	OMIM:617829
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Pachygyria, Slender build, Polymicrogyria	OMIM:300831
13Q12.3 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptorchidism, Obesity, Camptoda...	ORPHA:412035
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r...	ORPHA:79324
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Decreased compound muscle action potential amplitude, Bronchiectasis, Small the...	OMIM:620080
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage	ORPHA:247257
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Optic nerve hypoplasia, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidi...	OMIM:612513
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi...	ORPHA:514
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Scoliosis, Lymphopenia	ORPHA:391307
Scimitar Syndrome	Respiratory distress, Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Coug...	ORPHA:185
Classic Galactosemia	Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Encephalopathy	ORPHA:79239
Developmental And Epileptic Encephalopathy 17	Cerebral atrophy, Epileptic encephalopathy	OMIM:615473
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Brain atrophy, Encephalopathy	OMIM:614739
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage,...	ORPHA:420741
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Cerebellar vermis atrophy, Epileptic encephalopathy	OMIM:618501
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Reduced forced vital capacity, Increased variability in mus...	OMIM:620161
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation...	ORPHA:397590
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Interictal ep...	OMIM:620166
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Facial hypotonia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cere...	OMIM:618659
Early Myoclonic Encephalopathy	Epileptic encephalopathy	ORPHA:1935
Hypoglossia With Situs Inversus	Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia	OMIM:612776
Succinic Acidemia	Respiratory distress	OMIM:600335
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Developmental And Epileptic Encephalopathy 27	Epileptic encephalopathy	OMIM:616139
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Decreased hepatic echogenicity, Failure to thrive	OMIM:613752
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Limb hypertonia, Brain atrophy, Encephalopathy	ORPHA:442835
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Cachexia, Enlarged polycystic ova...	ORPHA:744
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:280234
Developmental And Epileptic Encephalopathy 33	Epileptic encephalopathy	OMIM:616409
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Respiratory...	OMIM:620327
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Morgagni...	OMIM:613309
Developmental And Epileptic Encephalopathy 26	Epileptic encephalopathy	OMIM:616056
Image Syndrome	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Intrauterine growth retardation	ORPHA:85173
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hyperventilation, Jaundice, Hepatitis, Hep...	ORPHA:90062
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Short stature, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita...	OMIM:615834
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Neurodegeneration	OMIM:615889
Acrofacial Dysostosis, Catania Type	Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retardation, Spina bifida occulta	OMIM:101805
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Apnea, Cryptorchidism, Jaundice...	OMIM:214110
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Micro Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Optic atr...	ORPHA:2510
Combined Malonic And Methylmalonic Acidemia	Encephalopathy	ORPHA:289504
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnorm...	ORPHA:2522
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Short stature, Microcytic anemia, Cryptorchidism, Insulin-resistan...	ORPHA:293967
Developmental And Epileptic Encephalopathy 43	Epileptic encephalopathy	OMIM:617113
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Small scrotum, Short stature, Rhizomelia, Cryptorchidism, Skeletal muscle hyp...	OMIM:617164
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Optic at...	OMIM:619487
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Hypospadias, Optic nerve hypoplasia, Small for gestational age, Short stature, Cryp...	OMIM:301056
Atelis Syndrome 2	Thrombocytopenia, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonary stenosis, Vitreous hem...	OMIM:620185
Becker Nevus Syndrome	Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ...	ORPHA:64755
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Optic atrophy, H...	ORPHA:66634
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Growth d...	ORPHA:1194
Birk-Aharoni Syndrome	Cryptorchidism, Micropenis, Failure to thrive, Macrocytic anemia	OMIM:620071
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Short neck, Splenomegaly, Jaundice, Increased var...	OMIM:611881
Prader-Willi Syndrome	Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte...	OMIM:176270
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Flexion contracture, Optic atrophy, Apneic episodes in infancy, Abnormal auto...	ORPHA:35069
Cog5-Cdg	Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Short stature, Camptodactyly of finge...	ORPHA:263487
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Atrophy of the spinal cord, Jaund...	ORPHA:79282
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r...	ORPHA:803
Scheie Syndrome	Corneal opacity	OMIM:607016
Fanconi Anemia, Complementation Group O	Chromosome breakage, Short stature, External genital hypoplasia, Cryptorchidism, Small thenar emi...	OMIM:613390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Cerebral Visual Impairment	Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke, Neurodegeneration	ORPHA:447788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,...	OMIM:171420
Dravet Syndrome	Cerebral atrophy, Epileptic encephalopathy	OMIM:607208
Developmental And Epileptic Encephalopathy 72	Cerebral atrophy, Epileptic encephalopathy	OMIM:618374
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular...	OMIM:271225
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Short neck, EEG abnormality, Abnormal circulating calci...	ORPHA:50810
Chromosome 16Q22 Deletion Syndrome	Small for gestational age, Hypospadias, Short neck, Postnatal growth retardation, Cryptorchidism,...	OMIM:614541
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia	OMIM:601163
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-Co...	OMIM:251110
Noonan Syndrome 8	Short stature, Large for gestational age, Short neck, Cryptorchidism, Patent ductus arteriosus, L...	OMIM:615355
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Grow...	ORPHA:75496
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Short stature, Dysmenorrhea, Hepatocellular carcinoma, Pos...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N...	OMIM:616239
Marden-Walker Syndrome	Decreased muscle mass, Hypospadias, Short neck, Postnatal growth retardation, Cryptorchidism, Kyp...	OMIM:248700
Arthrogryposis Multiplex Congenita 6	Hypospadias, Respiratory failure, Increased variability in muscle fiber diameter, Nemaline bodies...	OMIM:619334
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
Aortic Arch Interruption	Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa...	ORPHA:2299
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Growth delay...	ORPHA:77259
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo...	OMIM:264600
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Ruvalcaba Syndrome	Short stature, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty	OMIM:180870
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab...	OMIM:610628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Developmental And Epileptic Encephalopathy 54	Epileptic encephalopathy	OMIM:617391
Intellectual Developmental Disorder, Autosomal Dominant 47	Small for gestational age, Supernumerary nipple, Cryptorchidism, Cerebral atrophy, Scoliosis, Int...	OMIM:617635
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Abnormality ...	OMIM:300957
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:231625
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Clitoral ...	ORPHA:398069
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
1Q41Q42 Microdeletion Syndrome	Short stature, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, H...	ORPHA:250999
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy...	OMIM:601152
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Acute encephalopathy, Hypothyroidism, Hashimoto thyroiditis, T...	ORPHA:83601
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Limb hypertonia, Cerebral atrophy, Epileptic encephalopathy	OMIM:617276
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, Cachexia, Patent ductus arteriosus, Freckled genitalia, Anemia	ORPHA:79076
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Respiratory insufficiency, ...	ORPHA:994
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Developmental And Epileptic Encephalopathy 74	Epileptic encephalopathy	OMIM:618396
Cowden Syndrome 1	Hyperthyroidism, Kyphosis, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, O...	OMIM:158350
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia	OMIM:175500
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Small for gestational age, Congenital diaphragmatic hernia, Abnormality of the end...	ORPHA:95706
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Crackles, Excessive bleeding after a venipuncture, Myocarditis, Leuk...	ORPHA:319213
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Infantile encephalopathy, Apnea, Cardiomyopathy, Inspiratory stridor	OMIM:600721
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Short stature, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Abnormality of ...	ORPHA:364028
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Kyphosis, Increased circulating IgE level, EEG abnormality, Scoliosis	ORPHA:1858
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Nipah Virus Disease	Respiratory distress, Hypotension, Cough	ORPHA:99825
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial...	ORPHA:2038
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Epileptic encephalopathy	OMIM:618141
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Short stature, Cryptorchidism, Thiamine-responsive megal...	OMIM:249270
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating I...	OMIM:300861
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abn...	ORPHA:97214
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Retrocollis, Senile plaque...	OMIM:601104
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus, Congenital diaphragmatic hernia	OMIM:615524
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Upper limb hypertonia	ORPHA:319199
Li-Campeau Syndrome	Short stature, Cryptorchidism, Patent ductus arteriosus, Micropenis, Hypothyroidism	OMIM:619189
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, Flexion contracture, Respiratory insufficiency	OMIM:618388
Developmental And Epileptic Encephalopathy 75	Epileptic encephalopathy, Cardiomyopathy, Prolonged neonatal jaundice, Frontal cortical atrophy, ...	OMIM:618437
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidism, Kyphosis, Reduced alph...	OMIM:301040
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Kyphosis, Scoliosis, Decreased circulating antibody level	ORPHA:85317
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congenital ...	ORPHA:2519
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Flexion contracture of fing...	OMIM:609033
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Short stature, Obesity	OMIM:618822
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Sulfide:Quinone Oxidoreductase Deficiency	Acute encephalopathy	OMIM:619221
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Short stature, Increased variability in muscle fiber diameter...	ORPHA:502423
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Hepatosplenomegaly, Epileptic encephalopathy, Global brain atrophy	OMIM:608776
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers	OMIM:616744
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, T lymphocytopenia, Decreased circulating IgG level, Abnormality o...	ORPHA:508533
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response ...	ORPHA:363528
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Knee flexion contract...	ORPHA:3208
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Cerebral cort...	OMIM:606353
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Sacral dimple, Limb joint contracture, Short stature, Short neck, Cryptorchidism, Scoliosis, Decr...	ORPHA:505237
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Abnormal internal carotid artery morphology, Flexion contracture, Lower lim...	ORPHA:365
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Macroglossia, Abnormal mitochondrial shape, Cerebral atrophy	ORPHA:412217
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Diaphanospondylodysostosis	Respiratory distress, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve...	ORPHA:66637
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym...	OMIM:618935
Developmental And Epileptic Encephalopathy 46	Limb hypertonia, Cerebral atrophy, Epileptic encephalopathy	OMIM:617162
Carpenter Syndrome 1	Sacral dimple, Short stature, External genital hypoplasia, Short neck, Precocious puberty, Crypto...	OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Thrombocytopenia, L...	ORPHA:90051
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Optic atrophy, Growth delay, Respiratory failure, Failure to thriv...	ORPHA:2707
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog...	OMIM:308750
Ethylmalonic Encephalopathy	Petechiae, Encephalopathy	ORPHA:51188
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl...	ORPHA:2470
Poliomyelitis	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormal motor nerve...	ORPHA:2912
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Neutropenia, Anemia, Epileptic encephalopathy	OMIM:618067
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, H...	OMIM:230500
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Fryns-Smeets-Thiry Syndrome	Cachexia, Short stature, Scoliosis	ORPHA:2058
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod...	ORPHA:411593
Seckel Syndrome 1	Pancytopenia, Hypospadias, Proportionate short stature, Postnatal growth retardation, Cryptorchid...	OMIM:210600
Encephalopathy, Ethylmalonic	Petechiae, Encephalopathy	OMIM:602473
Baraitser-Winter Syndrome 1	Short stature, Short neck, Postnatal growth retardation, Cryptorchidism, Pachygyria, Patent ductu...	OMIM:243310
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Muscular edema	ORPHA:3165
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased bo...	OMIM:608013
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili...	ORPHA:922
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, ...	ORPHA:85450
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness...	ORPHA:90658
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel...	OMIM:613179
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Weight los...	ORPHA:79127
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Chronic hepatic encephalopathy, Hepatic fibro...	OMIM:271500
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Kyphoscoliosis, Congenital diaphragmatic hernia, Cryp...	ORPHA:96170
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Harrod Syndrome	Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retardation, Failure to thr...	ORPHA:2115
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoredu...	OMIM:231680
Felty Syndrome	Hepatomegaly, Sinusitis, Splenomegaly, Recurrent pneumonia, Weight loss, Anemia, Lymphadenopathy,...	ORPHA:47612
Isolated Complex I Deficiency	Hepatomegaly, Respiratory insufficiency, Decreased activity of mitochondrial complex I, Hypertrop...	ORPHA:2609
Icf Syndrome	Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Decreased circula...	ORPHA:2268
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Decreased activity of mitochondrial ATP synthase complex, Cryptorchidism, Respiratory insufficien...	OMIM:614052
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Aspiration pneumonia, Decreased circulating carnitine concentration, Progress...	ORPHA:431361
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Optic atrophy, I...	ORPHA:401768
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism, Joint co...	OMIM:615381
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenome...	OMIM:612852
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Truncal titubation, Paraparesis, Facial palsy, Encephalopathy	OMIM:607483
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Short stature, Short neck, Cryptorchidism, Flexion contracture, Scoliosis, Decreas...	OMIM:617452
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contractu...	OMIM:620369
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis...	ORPHA:398079
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Septo-optic dysplasia, Ectopic posterior pituitary, Short stature, Adrenal h...	ORPHA:95496
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Failure to thrive	ORPHA:261304
Autosomal Recessive Cutis Laxa Type 2A	Athetosis, Abnormal cornea morphology, Corneal opacity, Dystonia	ORPHA:357058
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Proportionate short stature, Cryptorchidism, Asthma, Hemivertebrae, In...	OMIM:620331
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine gr...	OMIM:620133
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
X-Linked Creatine Transporter Deficiency	Short stature, Aganglionic megacolon, Cachexia	ORPHA:52503
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Patent d...	ORPHA:251071
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Short stature, Dysgammaglobulinemia...	OMIM:251260
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of fi...	ORPHA:2554
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth...	OMIM:617143
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Distal amyotrophy, Scoliosis,...	OMIM:270550
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Isolated Hemihyperplasia	Cryptorchidism, Scoliosis	ORPHA:2128
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity	DECIPHER:29
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Acute encephalopathy	OMIM:614849
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Upper limb m...	ORPHA:206443
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased body weight, Cerebral cortical...	OMIM:617672
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Cryptorchidism, Hypoplastic l...	OMIM:224690
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Short statur...	ORPHA:251066
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:618008
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Odontochondrodysplasia 1	Respiratory distress, Biconvex vertebral bodies, Short stature, Coronal cleft vertebrae, Platyspo...	OMIM:184260
Nelson Syndrome	Testicular neoplasm, Quadriceps muscle atrophy, Pituitary corticotropic cell adenoma, Adrenocorti...	ORPHA:199244
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Respiratory di...	ORPHA:26793
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal...	OMIM:614732
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity	OMIM:249900
Spinocerebellar Ataxia With Epilepsy	Progressive encephalopathy, Myopathy	ORPHA:254881
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Short stature, Cryptorchidism, Obesity, Micropenis, Decreased...	OMIM:619185
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Respiratory insufficiency, Blind vagina, Mi...	ORPHA:456328
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal a...	ORPHA:909
Multifocal Motor Neuropathy	Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block	ORPHA:641
Encephalitis Lethargica	Encephalopathy, Upper limb muscle weakness, Increased circulating antibody level, Bradycardia, Hy...	ORPHA:83600
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Tachycardia, Myositis, Sinusitis, Abscess, Pneumonia, Myocarditis, P...	ORPHA:36234
Gracile Bone Dysplasia	Short stature, Asplenia, Hypoplastic spleen, Micropenis, Failure to thrive	OMIM:602361
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t...	ORPHA:96179
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Kyphos...	OMIM:607015
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Sandifer Syndrome	Hematemesis, Abnormal posturing, Torticollis, Anemia	ORPHA:71272
Kohlschutter-Tonz Syndrome	Cerebral atrophy, Epileptic encephalopathy	OMIM:226750
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short ...	OMIM:227650
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu...	OMIM:162400
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Cryptorch...	OMIM:600901
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Stt3A-Cdg	Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive	ORPHA:370921
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice...	OMIM:274150
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Abnormal lymphatic vessel...	ORPHA:2330
Warburg Micro Syndrome 2	Small scrotum, Postnatal growth retardation, Cryptorchidism, Flexion contracture, Optic atrophy, ...	OMIM:614225
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Hypospadias, Short neck, Cryptorchidism, Pat...	OMIM:217980
Developmental And Epileptic Encephalopathy 42	Flexion contracture, Epileptic encephalopathy	OMIM:617106
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck,...	OMIM:300514
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Increased variability in muscle fiber diameter	OMIM:617915
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy, Encephalopathy	OMIM:618810
German Syndrome	Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Ambiguous genitalia, Arthrogr...	ORPHA:2077
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-Co...	OMIM:251100
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Growth delay, EEG abnormality, Scoliosis, Ab...	ORPHA:3095
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Atrophy of the spinal cord, Decreased compound muscle action poten...	OMIM:602433
19P13.12 Microdeletion Syndrome	Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Hypothyroidism, Obesity, S...	ORPHA:254346
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter...	OMIM:307200
Colchicine Poisoning	Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Cardiores...	ORPHA:31824
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism...	ORPHA:85323
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	OMIM:237310
Hurler Syndrome	Hepatomegaly, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomega...	OMIM:607014
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia...	ORPHA:101076
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, ...	OMIM:619005
Arthrogryposis, Distal, Type 1A	Hip contracture, Short stature, Cryptorchidism, Elbow flexion contracture, Knee flexion contractu...	OMIM:108120
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Short neck, Disproportionate short-trunk short...	OMIM:156550
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea, Encephalopathy	ORPHA:137754
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, Po...	OMIM:242840
Congenital Diaphragmatic Hernia	Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox...	ORPHA:2140
Acrocallosal Syndrome	Cryptorchidism, Hypospadias, Congenital diaphragmatic hernia	ORPHA:36
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Sco...	OMIM:610532
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio...	OMIM:234250
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Respiratory failure, Encephalopathy	OMIM:610678
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Global brain atrophy, Epileptic encephalopathy	ORPHA:79096
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Supernumerary nipple, Corpus callosum atrophy, Epile...	OMIM:617339
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contrac...	OMIM:616866
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Disproportionate short-tru...	ORPHA:583
Tatton-Brown-Rahman Syndrome	Proportionate short stature, Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, Obesity, M...	ORPHA:404443
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic encephalopathy, Prolonged prothrombin ...	OMIM:618641
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Epileptic encephalopathy	OMIM:617831
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr...	OMIM:613990
Schilder Disease	Encephalopathy	ORPHA:59298
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Igg4-Related Aortitis	Low back pain, Increased circulating IgG4 level, Asthma, Increased circulating IgE level, Hypereo...	ORPHA:449400
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hemivertebrae, Growth delay, Scoli...	ORPHA:85284
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Emphysema, Lymphopenia, Th...	OMIM:620365
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Failure to thrive, Sinusitis, Splenomegaly, Flexion contracture, Lymphade...	OMIM:617591
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth...	OMIM:617301
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, Asthma, Polymicrogyria, ...	ORPHA:457485
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Failure to thrive, Cer...	ORPHA:99949
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Hypospadias, Cryptorchidism, Spinal canal stenosis, Obesity, Congenital hypoth...	OMIM:614613
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:42642
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Hyperhidrosis, H...	ORPHA:94093
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ...	ORPHA:2759
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis	OMIM:610743
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Optic atro...	OMIM:164400
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Optic nerve hypoplasia, Decreased lymphocyte proliferation in resp...	ORPHA:221139
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Encephalopathy	OMIM:618890
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Asthma, Hypogonadism, S...	ORPHA:500055
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss, Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Scoliosis	ORPHA:2429
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Flexion contracture, Optic atrophy, Scoliosis	OMIM:619383
Kapur-Toriello Syndrome	Camptodactyly of finger, Short neck, Pachygyria, Cryptorchidism, Patent ductus arteriosus, Hypopl...	OMIM:244300
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Upper airway obstruction	ORPHA:100057
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Respiratory distress, Kyphoscoliosis	ORPHA:98805
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
Cockayne Syndrome Type 2	Hepatomegaly, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadism, Intrau...	ORPHA:90322
Noonan Syndrome 14	Scapular winging, Short stature, Short neck, Cryptorchidism, Kyphosis, Lymphopenia	OMIM:619745
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Repeated pneumothoraces, Cryptorchid...	OMIM:617602
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Episodic hyperhidro...	ORPHA:276621
Marburg Hemorrhagic Fever	Nonproductive cough, Hepatic encephalopathy, Leukopenia, Abnormal lymphocyte morphology, Internal...	ORPHA:99826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp...	ORPHA:293978
Tetrasomy 5P	Respiratory distress, Short neck, Postnatal growth retardation, Aplasia/Hypoplasia of the abdomin...	ORPHA:3309
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Hypospadias, ...	ORPHA:209905
Trisomy 13	Cryptorchidism, Kyphosis, Patent ductus arteriosus, Optic atrophy, Scoliosis, Displacement of the...	ORPHA:3378
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Cryptorchidism, Patent ductus arteriosus, Lissencephaly, Brain atrophy, Intrauterine ...	OMIM:612938
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Short stature, Cryptorchidism, Cerebellar vermis atrophy, Simplified gyral pat...	OMIM:616541
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven...	ORPHA:90307
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Hypospadias, Short stature, Cryptorchidism, Optic atrophy, Scoliosis	OMIM:300004
Hereditary Sensory And Autonomic Neuropathy Type 1	Distal amyotrophy, Cough, Abnormality of the autonomic nervous system, Foot dorsiflexor weakness,...	ORPHA:36386
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Distal amyotrophy, Scoliosis, I...	OMIM:617675
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Hypomelanosis Of Ito	Gray matter heterotopia, Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Srd5A3-Cdg	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyp...	ORPHA:324737
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Supernumerary nipple, Cryptorchidism, Kyphosis, Scoliosis, Leukemia, Mic...	OMIM:619951
Cutis Laxa, Autosomal Recessive, Type Iiia	Short stature, Cryptorchidism, Distal amyotrophy, Scoliosis, Intrauterine growth retardation, Fai...	OMIM:219150
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve...	OMIM:619040
Developmental And Epileptic Encephalopathy 3	Brain atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:609304
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Kyphosis, Optic atrophy, Bronchiectasis, Interstitial emphysema, Knee flexion...	OMIM:619708
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Short stature, Short neck, Cryptorchidism, Kyphosis	ORPHA:3082
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Cerebellar vermis atr...	OMIM:617435
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:603472
Seckel Syndrome 5	Short stature, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral pattern,...	OMIM:613823
Listeriosis	Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Abscess, Pneumonia, Myocarditis...	ORPHA:533
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Respiratory distress, Cryptorchidism, Abnormality of the pancreas, Optic atrophy, ...	ORPHA:1555
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Severe short stature, Ca...	ORPHA:2215
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,...	ORPHA:2635
Chromosome 18P Deletion Syndrome	Small for gestational age, Short stature, Short neck, Cryptorchidism, Gonadal dysgenesis, Micrope...	OMIM:146390
Hyperprolinemia Type 2	Encephalopathy	ORPHA:79101
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Encephalopathy	OMIM:606688
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Epileptic encephalopathy, Type 1 muscle fiber predominance, Increased variability in muscl...	OMIM:612949
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Weight loss, Macroglossia, Abnor...	ORPHA:85443
Developmental And Epileptic Encephalopathy 13	Cerebral atrophy, Epileptic encephalopathy	OMIM:614558
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Heart murmur, Res...	ORPHA:163979
Brucellosis	Liver abscess, Leukopenia, Abnormality of the liver, Increased circulating IgG level, Hepatomegal...	ORPHA:1304
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Developmental And Epileptic Encephalopathy 55	Limb hypertonia, Flexion contracture, Epileptic encephalopathy	OMIM:617599
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoglycemic encephalopathy, Dilated cardiomyopathy, Hepatic necrosis, Pro...	ORPHA:71212
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Failure to thrive, Camptodactyly of ...	ORPHA:2990
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Profound static encephalopathy	OMIM:600176
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Abnormal cortical gyration, Cryptorchidism, Optic a...	ORPHA:899
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Short neck, Cryptorchidism, Growth d...	ORPHA:2083
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Distal amyotrophy, Failure to thrive in infancy, Foot dorsif...	ORPHA:477817
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Short neck, Cryptorchidism, Abnormality of the pa...	ORPHA:3376
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Athetosis, Anemia, Iris hypopigmentation	ORPHA:2719
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Short stature, Decreased nerve conduction velocity, Optic atrophy, Hypogonadism	OMIM:610651
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:2655
Stankiewicz-Isidor Syndrome	Sacral dimple, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Abnormal optic...	OMIM:617516
Multiple Sulfatase Deficiency	Hepatomegaly, Short stature, Splenomegaly, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Allergic rhinitis, Asthma, Increased ...	OMIM:615816
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Short stature, Short neck, Cryptorchidism, Growth delay	OMIM:613224
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Cryptorchidism, Jaundice, Flexion contracture, Respiratory insufficiency, Hypsarrhythmia	OMIM:608093
Reni Syndrome	Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroidism	OMIM:617575
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Respiratory insufficiency, Thrombocytopenia	ORPHA:1237
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Respiratory insufficienc...	ORPHA:3191
Osteoglosphonic Dysplasia	Severe short stature, Failure to thrive in infancy, Rhizomelia, Cryptorchidism, Abnormal form of ...	ORPHA:2645
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Epileptic encephalopathy	OMIM:616211
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Lumbar hyperlordosis, Small scrotum, Small for gestational age, Short stature, ...	OMIM:609625
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature	ORPHA:2786
Distal Triplication 15Q	Abnormal external genitalia, Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexi...	ORPHA:314588
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Cryptorchi...	OMIM:254940
Adrenoleukodystrophy	Primary adrenal insufficiency, Impotence, Neurodegeneration, Hypogonadism, Lower limb muscle weak...	OMIM:300100
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Abnormal sacrum morphology, Bifid sacrum, Uterus didel...	ORPHA:1756
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ...	OMIM:310400
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro...	OMIM:203800
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Cerebral atrophy	OMIM:608804
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Short stature, Cryptorchidism, Optic atrophy, Elbow flexion contracture,...	ORPHA:3132
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid ...	ORPHA:536467
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Cryptorchidism, Gray matter heterotopia, Vertebral segmentation def...	ORPHA:531151
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Decreased serum insulin-like growth factor 1, Short stature, Cryptorchidism, H...	ORPHA:314389
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H...	ORPHA:2020
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ...	OMIM:301041
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Cerebral atrophy, Epileptic encephalopathy	OMIM:617105
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Ambiguous g...	ORPHA:452
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Increased muscle li...	ORPHA:565612
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short stature, Short neck	OMIM:616455
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Omodysplasia 2	Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Rhizomelic arm shortening, Clitoral h...	OMIM:164745
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Hypoplasia of the thymus, Increased va...	OMIM:617022
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Limb hypertonia, Apnea, Encephalopathy	OMIM:619580
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne...	ORPHA:348
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Distal amyotrophy, Decreas...	OMIM:256840
Developmental Delay And Seizures With Or Without Movement Abnormalities	Epileptic encephalopathy	OMIM:617836
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Short stature, Pneumonia, Kyphoscoliosis, Autoimmune thrombocytopenia, Incr...	OMIM:607944
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased res...	ORPHA:177907
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Cryptorchidism, Asthma, Obesi...	ORPHA:96263
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Scoliosis, Mild sh...	OMIM:130060
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum...	ORPHA:330021
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Facial hypotonia, Short stature, Cryptorchidism, Flexion contractur...	OMIM:300534
Fumarase Deficiency	Decreased fumarate hydratase activity, Intrahepatic cholestasis, Cerebral atrophy, Mitochondrial ...	OMIM:606812
Diabetic Embryopathy	Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypoplasia of the abdominal wall musculature,...	ORPHA:1926
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Short neck,...	OMIM:151210
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Facial palsy, Cerebral hemorrhage...	ORPHA:2495
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Decreased circulating antibody leve...	OMIM:617425
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Weight loss, Anemia, Restrictive ventilatory defect, Neutropenia, Ab...	ORPHA:537
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypospadias, Small for gestational age, Short stature, Short neck, Postnatal growt...	OMIM:257300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity	ORPHA:363741
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Apnea, Cryptorchidism, Optic atrophy, Cerebral atrophy, Ambiguous genita...	OMIM:614969
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospadias, Congeni...	ORPHA:887
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Asplenia, Patent ductus arterios...	ORPHA:210122
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertilit...	ORPHA:71273
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Short stature, Postnatal growth retardation, Cryptorchid...	ORPHA:2323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contr...	ORPHA:464311
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape	ORPHA:543470
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough	ORPHA:99868
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Dyspnea, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Interstitial pneumon...	ORPHA:139402
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti...	ORPHA:3342
Peho Syndrome	Cerebellar atrophy, Infantile encephalopathy, Neuronal loss in central nervous system	OMIM:260565
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Cerebral atrophy, Epileptic encephalopathy	OMIM:618012
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Asthma, ...	ORPHA:8
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased nerve conduction velocity, Splenome...	OMIM:277900
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Rubinstein-Taybi Syndrome 1	Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papilla...	OMIM:180849
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Cerebral atrophy, Hepatic encephalopathy, Increased hepatic echogenicity, He...	OMIM:261680
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cerebral atrop...	OMIM:616084
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elev...	OMIM:101800
Zellweger Syndrome	Hepatomegaly, Hypospadias, Short stature, Cryptorchidism, Jaundice, Optic atrophy, Primary adrena...	ORPHA:912
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Neurocutaneous Melanocytosis	Intracranial hemorrhage	ORPHA:2481
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ...	OMIM:601495
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Landau-Kleffner Syndrome	Epileptic encephalopathy	ORPHA:98818
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab...	ORPHA:93360
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Paraparesis, Spinal arteriovenous malformation, Arteriovenous malformat...	ORPHA:53721
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	EEG abnormality, Kyphosis, Cerebral atrophy, Limb hypertonia	ORPHA:500180
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure...	OMIM:261740
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Pulmonary...	ORPHA:77261
Superficial Siderosis	Abnormal bleeding, Cerebellar atrophy, Lower limb muscle weakness, Subarachnoid hemorrhage, Atrop...	ORPHA:247245
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Attrv30M Amyloidosis	Impotence, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Huntington Disease	Caudate atrophy, Cerebral atrophy, Weight loss, Degeneration of the striatum, Abnormal libido, De...	ORPHA:399
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
49,Xxxxy Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Short neck, Pulmonary embolism, Cryptorchidism...	ORPHA:96264
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Respiratory distress, Pneumothorax, Glandular hypospadias, Cerebral atrophy, ...	OMIM:620306
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, In...	ORPHA:3121
Baralle-Macken Syndrome	Kyphosis, Obesity, Global brain atrophy	OMIM:619255
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeleta...	OMIM:255995
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,...	OMIM:171300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Short statu...	ORPHA:847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Brain atrophy...	ORPHA:314655
Uruguay Faciocardiomusculoskeletal Syndrome	Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C...	OMIM:300280
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ambiguous genitalia, Respiratory failure, Respiratory distress	OMIM:617895
Seckel Syndrome	Cachexia, Short stature, Scoliosis, Intrauterine growth retardation	ORPHA:808
Citrullinemia Type I	Hepatic encephalopathy, Torticollis, Tachypnea	ORPHA:247525
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Central hypothyroidism, Hepatic encephalopathy, Iron deficiency anemia, A...	ORPHA:1667
Loeffler Endocarditis	Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy	ORPHA:75566
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Cryptorchidism, Kyphos...	OMIM:610443
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Cryptorch...	OMIM:227646
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog...	ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Hepatomegaly, Decreased circulating IgG level, Premature ovarian insufficienc...	OMIM:212065
Marfan Syndrome	Skeletal muscle atrophy, Spontaneous pneumothorax, Cachexia, Kyphosis, Scoliosis, Emphysema, Slen...	ORPHA:558
Cohen Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Kyphosis, Optic atrophy, Obesity, Sc...	ORPHA:193
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Nonprogressive encephalopathy, Cerebral cortical atrophy	ORPHA:404451
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Epileptic encephalopathy	OMIM:615476
Congenital Laryngeal Web	Respiratory distress, Stridor, Short stature	ORPHA:2374
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Acute lymphoblastic leukemia, M...	ORPHA:486
Scarf Syndrome	Bifid scrotum, Diastasis recti, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal form...	ORPHA:3134
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Aspiration pneumonia, Cough	ORPHA:216866
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Abnormality of the hypothalamus-...	ORPHA:84
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Thyroiditis, Weight loss, Iron de...	OMIM:212750
Developmental And Epileptic Encephalopathy 32	Epileptic encephalopathy	OMIM:616366
Infantile Liver Failure Syndrome 2	Hepatic encephalopathy, Cardiomyopathy, Prolonged prothrombin time, Jaundice	OMIM:616483
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Hepatocellular carcinoma, Microvesic...	OMIM:256810
Takayasu Arteritis	Pulmonary arterial hypertension, Abnormal pattern of respiration, Anemia, Weight loss	ORPHA:3287
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Kyphosis, Hemiv...	ORPHA:2916
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Decreased activity of mitochondrial complex III, Encephalopathy	OMIM:615453
Bruck Syndrome 1	Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V...	OMIM:259450
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation test, Small ...	ORPHA:96182
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous...	ORPHA:752
Weismann-Netter Syndrome	Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ...	ORPHA:3344
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
3M Syndrome	Scapular winging, Hypospadias, Short stature, Hyperlordosis, Short neck, Increased vertebral heig...	ORPHA:2616
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
2P15P16.1 Microdeletion Syndrome	Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Camptodactyly of finger, Kyphosis, Op...	ORPHA:261349
Mucopolysaccharidosis Type 2	Papilledema, Irregularity of vertebral bodies, Hepatomegaly, Short stature, Decreased nerve condu...	ORPHA:580
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form ...	ORPHA:828
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Hepatomegaly, Apnea, Splenomegaly, Acute necrotizing...	OMIM:252010
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Flexion contracture, Stroke-like episode, Intracranial hemor...	ORPHA:86309
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta	ORPHA:2983
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Hypospadias, ...	ORPHA:798
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Short neck, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectas...	ORPHA:1655
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Sacral dimple, Failure to thrive, Hypospadias, S...	ORPHA:2556
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Osteoglophonic Dysplasia	Respiratory distress, Severe short stature, Hypospadias, Camptodactyly of finger, Rhizomelia, Sho...	OMIM:166250
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Hepatomegaly, Short stature, Decrease...	OMIM:619004
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Abnormal external ...	ORPHA:1199
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Cryptorchidism, Obesity, Growth delay, Macroglossia, Subc...	ORPHA:96147
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, EEG abnormality, Increased variability in muscle fiber diameter...	OMIM:619173
Autosomal Dominant Omodysplasia	Bifid scrotum, Hypoplasia of penis, Rhizomelia, Cryptorchidism, Ambiguous genitalia	ORPHA:93328
Systemic Capillary Leak Syndrome	Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Pancreatitis, Rhino...	ORPHA:188
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Cryptorchidism, Chromosomal breakage induced by crosslinking agents,...	OMIM:613951
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Hypoplastic labia majora, Camptodactyly of 2nd-5th fingers, Lumbar scolios...	OMIM:609128
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Respiratory insufficiency, Scoliosis	ORPHA:1545
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration, Respiratory...	ORPHA:93274
3C Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Adrenal hypoplasia, Short neck, Postnatal growth...	ORPHA:7
Developmental And Epileptic Encephalopathy 19	Epileptic encephalopathy	OMIM:615744
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short stature, Short neck, Cryptorchidism, Kyphosis, Pat...	OMIM:130720
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Pituitary hypothyroidism, Intracranial hemorrhage, Adr...	ORPHA:91350
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Ankle flexion contracture, Cryptorchidism, Knee flexion contracture, Severe postnata...	ORPHA:435938
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Abnormal posturing	OMIM:128100
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, Limb hypertonia, Cerebral cortical atrophy, Encephalopathy	OMIM:615803
Cyclic Neutropenia	Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent...	ORPHA:2686
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Pancytopenia, Short stature, Cryptorchidism, Hypothyroidism	ORPHA:85321
Developmental And Epileptic Encephalopathy 4	Infantile encephalopathy, Cerebral atrophy, Epileptic encephalopathy	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Intraventricular hemorrhage, Cerebral atrophy, Aspiration pneumonia	OMIM:616430
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Short neck, Asplenia, Cryptorchidism, Patent ductus...	ORPHA:99776
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly	OMIM:619123
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Weight loss, Anemia	ORPHA:2070
Chops Syndrome	Short stature, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Obesity, As...	OMIM:616368
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ab...	ORPHA:1187
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Respiratory failure, Scoliosis	ORPHA:79327
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Recurrent pneumonia, Neutropenia	OMIM:620012
Kleefstra Syndrome 2	Growth delay, Kyphosis, Scoliosis	OMIM:617768
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension, Mitral regurgitation,...	ORPHA:363618
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy, Respiratory insufficiency, Weight loss	ORPHA:26790
Congenital Sialidosis Type 2	Developmental cataract, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93400
Developmental And Epileptic Encephalopathy 52	Epileptic encephalopathy	OMIM:617350
Ogden Syndrome	Torticollis, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Scoliosis	ORPHA:276432
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Optic atrophy, EEG abnormality, Ere...	ORPHA:649
Autosomal Recessive Dopa-Responsive Dystonia	Progressive encephalopathy	ORPHA:101150
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pachygyria, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Hepatospl...	OMIM:614866
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Epileptic encephalopathy	OMIM:617166
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a...	ORPHA:99956
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal...	ORPHA:3042
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Limb hypertonia, Epileptic encephalopathy	OMIM:615905
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Abnormality of th...	ORPHA:254892
Asparagine Synthetase Deficiency	Caudate atrophy, Encephalopathy, Respiratory insufficiency, Diaphragmatic eventration, Global bra...	OMIM:615574
Developmental And Epileptic Encephalopathy 94	Epileptic encephalopathy	OMIM:615369
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Hypospadias, Increased mean platelet volume, Cryptorchidism, Patent ductus ar...	OMIM:616737
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Episodic hyperhidro...	ORPHA:29072
Developmental And Epileptic Encephalopathy 24	Epileptic encephalopathy	OMIM:615871
Bruck Syndrome	Short stature, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis mult...	ORPHA:2771
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulating IgG level, Abn...	ORPHA:2298
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg...	ORPHA:1572
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti...	OMIM:610921
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Rhizomelia, Cryptorchidism, J...	OMIM:602471
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss	ORPHA:93958
Kcnq2-Related Epileptic Encephalopathy	Apnea, Cerebral atrophy, Epileptic encephalopathy	ORPHA:439218
Caudal Regression Syndrome	Decreased muscle mass, Maternal diabetes, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypop...	ORPHA:3027
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Cryptorchidism, Kyphosis, Simplified gyral pattern, Cerebral atrophy	OMIM:619244
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Small for gestational age, Cryptorchidism, Cerebral atrophy, Respiratory failure, ...	OMIM:619847
Gitelman Syndrome	Respiratory distress, Hyperhidrosis, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, H...	ORPHA:358
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty...	OMIM:147950
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Short stature, EEG with abnormally slow frequencies, Kyphosis, ...	OMIM:618493
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Distal amyotrophy, Scoliosis	OMIM:609541
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Epileptic encephalopathy	OMIM:613443
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Huntington Disease-Like 2	Cerebral cortical atrophy, Weight loss	OMIM:606438
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Sjögren-Larsson Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:816
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Upper limb mu...	ORPHA:320375
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Short stature, Abnormal cortical gyration, Abnormality of th...	OMIM:300968
Juvenile Huntington Disease	Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss	ORPHA:248111
Kleefstra Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Supernumerary nipple, Cryptorchidism, Dyspnea, O...	ORPHA:261494
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Cerebral atrophy, Increased circ...	OMIM:618213
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia	OMIM:614898
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre...	ORPHA:93314
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Splenic cyst	OMIM:618188
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Aspartylglucosaminuria	Hepatomegaly, Short stature, Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Macroglossia, Pl...	OMIM:208400
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ...	ORPHA:509
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Obesity, Increased circulating ACTH level, ...	OMIM:219090
Carnitine Palmitoyltransferase I Deficiency	Hepatic steatosis, Arrhythmia, Recurrent encephalopathy, Hepatomegaly	OMIM:255120
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Encephalopathy	OMIM:617669
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Thoracic kyphosis, Aspiration pneumonia, Pac...	OMIM:602535
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Testicular adrenal rest tumor, Polycystic ovaries, Intracra...	ORPHA:90795
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P...	ORPHA:60025
Noonan Syndrome 4	Short stature, Large for gestational age, Short neck, Cryptorchidism, Scoliosis, Thrombocytopenia	OMIM:610733
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small...	ORPHA:464306
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Optic ...	OMIM:181000
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Gr...	OMIM:614294
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Premature ovarian insufficiency, ...	ORPHA:199299
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Hypospadias, Optic nerve hypo...	ORPHA:468631
Lymphoid Interstitial Pneumonia	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Dyspnea, Wheezing, Bronchiectasis, Weight lo...	ORPHA:79128
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Respiratory distress, Thoracic scoliosis, Neonatal respirator...	OMIM:114290
Ebola Hemorrhagic Fever	Acute pancreatitis, Dyspnea, Hepatitis, Leukopenia, Increased circulating antibody level, Cough, ...	ORPHA:319218
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Rhab...	OMIM:124000
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Microphthalmia, Lenz Type	Hypospadias, Camptodactyly of finger, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Opt...	ORPHA:568
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Short stature, Kyphoscoliosis, Cryptorchidism, Kyphosis, EEG ...	ORPHA:3063
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Short stature, Small for gestational age, Cryptorchidism, Growth d...	ORPHA:97362
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, ...	ORPHA:3097
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis...	OMIM:618443
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hemivertebrae, Growth...	ORPHA:77298
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Dyspnea, Leukocytosis, Weight loss, Pleural empyema, Cough, Pleural ...	ORPHA:67
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidi...	OMIM:618454
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Epileptic encephalopathy	OMIM:619881
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Respiratory insufficiency, Lymphadenopathy, Restrictive ventil...	ORPHA:549
Desbuquois Dysplasia 1	Neonatal respiratory distress, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity...	OMIM:251450
Trichothiodystrophy	Multiple joint contractures, Cryptorchidism, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Pachygyria, Poly...	OMIM:603387
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Mitochondrial ma...	OMIM:229300
Trisomy 20P	Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the ...	ORPHA:261318
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Patent ductus arteriosus, Tricuspid regurgitation, Respiratory dist...	OMIM:612863
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Neutropenia, Reduced number of intrahepatic bile ducts, Megaloblasti...	ORPHA:79284
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,...	OMIM:219080
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Patent ductus arteriosus, Respiratory insufficiency, Intrauterine growth retardation, L...	OMIM:619909
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Cryptorchidism, Diffuse cerebral atrophy, Hypothyroidism	OMIM:619908
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short stature	OMIM:617102
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Encephalopathy	OMIM:614212
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Flexion contracture, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:615491
Friedreich Ataxia	Decreased motor nerve conduction velocity, Hand muscle atrophy, Diabetes mellitus, Optic atrophy,...	ORPHA:95
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Premature thelarche, Rhabdomyolysis, Optic atrophy, Cerebral atrophy, Neuro...	OMIM:616878
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage, Limb hypertonia	OMIM:618480
Pseudo-Torch Syndrome 1	Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Thrombocytopenia	OMIM:251290
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Small for gestational age, Short stature, Pachygyria, Cryptorchidism, Pat...	OMIM:620024
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:603516
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Neonatal respiratory distress, ...	OMIM:214100
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio...	OMIM:313400
Familial Pancreatic Carcinoma	Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Hepa...	ORPHA:1333
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ...	OMIM:613457
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Vaginal neoplasm, Weight loss, Neoplasm of the liv...	ORPHA:2126
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Follicular hyperplasia, Splenomegaly, Hepatitis...	OMIM:619381
Nocardiosis	Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P...	ORPHA:31204
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st...	ORPHA:763
Glutaric Acidemia I	Infantile encephalopathy, Hepatomegaly, Encephalopathy	OMIM:231670
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Multiple joint contractures, Cryptorchidism, EEG with burst sup...	OMIM:618143
Ritscher-Schinzel Syndrome 2	Camptodactyly of finger, Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:300963
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspn...	ORPHA:255210
Achondroplasia	Respiratory distress, Lumbar hyperlordosis, Rhizomelia, Upper airway obstruction, Lumbar kyphosis...	OMIM:100800
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Weight loss, Central nervou...	ORPHA:183
Developmental And Epileptic Encephalopathy 108	Small pituitary gland, Epileptic encephalopathy	OMIM:620115
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:565
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Optic atrophy, Cachexia	ORPHA:220295
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Hyperthyroidism, Decreased response to growth hormone stimulation test, ...	ORPHA:488632
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis, Abnormal cranial nerve morphology	ORPHA:990
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Distal amyotrophy, Pontocerebellar...	OMIM:606002
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis...	ORPHA:15
Prune Belly Syndrome	Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wall musculature	OMIM:100100
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Short stature, Diastasis rec...	ORPHA:576
Pediatric Systemic Lupus Erythematosus	Myositis, Dyspnea, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Pleural effusi...	ORPHA:93552
Chitayat Syndrome	Respiratory distress, Short stature, Tracheomalacia	OMIM:617180
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Splenomegaly, Dyspnea, Myocardial calcification,...	ORPHA:75565
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Short stature, Diastasis recti, Cryptorchidism, Growth delay, Micro...	OMIM:248340
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism, Obesity	OMIM:601794
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Abnormal cortical gyration, Kyphosis, Optic atrophy, Respiratory insufficiency, Congenital...	OMIM:617527
Polymyositis	Hepatomegaly, Abnormal muscle fiber morphology, Respiratory insufficiency, Weight loss, Cough, Ex...	ORPHA:732
3Mc Syndrome 2	Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscl...	OMIM:265050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc...	ORPHA:391487
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Decreased activity of mitochondrial comp...	OMIM:619055
Stüve-Wiedemann Syndrome	Respiratory distress, Sacral dimple, Short stature, Camptodactyly of finger, Apnea, Asthma, Flexi...	ORPHA:3206
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
3Mc Syndrome	Diastasis recti, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Postnatal growth ...	ORPHA:293843
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:244200
Trichinellosis	Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery occlusi...	ORPHA:863
Cowden Syndrome 6	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615109
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, E...	ORPHA:90790
D-Glyceric Aciduria	Progressive encephalopathy, Brain atrophy	ORPHA:941
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Flexio...	OMIM:300868
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Hypo...	ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Abdominal obesity, Scoliosis, Camptodactyly	OMIM:301039
Hemifacial Atrophy, Progressive	Kyphosis, Horner syndrome	OMIM:141300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp...	ORPHA:508542
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Decreased activity of ...	OMIM:220111
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pn...	OMIM:615846
Plaa-Associated Neurodevelopmental Disorder	Apnea, Abnormal cortical gyration, Kyphosis, Optic atrophy, Respiratory insufficiency, Hypsarrhyt...	ORPHA:521426
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy...	ORPHA:273
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Pachyg...	OMIM:235510
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Congenital diaphragmatic hernia, Precocious pube...	ORPHA:2322
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Short stature, Weight loss, Neoplasm of the ...	ORPHA:388
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Optic atrophy, Platyspondyly, Ne...	OMIM:618476
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
Fusariosis	Brain abscess, Myositis, Lung abscess, Sinusitis, Pneumonia, Productive cough, Abnormality of the...	ORPHA:228119
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Kyphosis, Scoliosis, Atrophy/Degeneration affecting ...	ORPHA:88644
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Short stature, Rhizomelia, Recurrent pneumonia, Platysp...	OMIM:613848
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica...	ORPHA:96253
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Failure to thrive	OMIM:616652
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci...	ORPHA:65682
Dubowitz Syndrome	Hypoparathyroidism, Sacral dimple, Hypospadias, Short stature, Abnormality of neutrophils, Postna...	ORPHA:235
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Failure to thrive, Pachygyria, Cryptorchidism, Gray matter heterotopia, Lissenceph...	OMIM:247200
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Prolonged QT interval, Anhidrosis, Crackles, Rhabdomyolysis, Tachypnea, Hepati...	ORPHA:466650
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Dyspn...	ORPHA:160
De Barsy Syndrome	Decreased muscle mass, Short stature, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidis...	ORPHA:2962
Alagille Syndrome	Hepatomegaly, Failure to thrive, Cryptorchidism, Abnormal form of the vertebral bodies, Cholestas...	ORPHA:52
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuat...	ORPHA:958
Cystinosis	Corneal opacity	ORPHA:213
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Epileptic encephalopathy	OMIM:620023
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst...	OMIM:613150
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Hashimoto thyroiditis, Renal tubular epithelial necrosis, Weigh...	ORPHA:49041
Ramos-Arroyo Syndrome	Respiratory distress, Severe short stature, Aganglionic megacolon, Patent ductus arteriosus, Abno...	ORPHA:1051
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency, Spinal r...	OMIM:616720
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:201300
Jacobsen Syndrome	Hypospadias, Short neck, Cryptorchidism, Flexion contracture, Optic atrophy, Clitoral hypoplasia,...	OMIM:147791
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Dilation of Virchow-Robin spaces, Flexion contracture, Epileptic encephalopathy	ORPHA:2148
Meier-Gorlin Syndrome 4	Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda...	OMIM:613804
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas...	OMIM:206900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea,...	OMIM:175780
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Growth delay, Scoliosis, Intrauterine growth retardation	ORPHA:238750
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis	OMIM:112350
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Encephalopathy	ORPHA:83597
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal vertebral morphology, Anemia	ORPHA:324964
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Short stature, Cryptorchidism, Hypoplastic labia minora, Dyspnea, Rec...	OMIM:613803
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Patent ductus arteriosus, Fused cer...	OMIM:617159
Arachnoid Cyst	Paraparesis, Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage	ORPHA:2356
Hereditary Central Diabetes Insipidus	Growth delay, Diabetes insipidus, Weight loss	ORPHA:30925
Pitt-Hopkins-Like Syndrome 2	Hyperventilation, Pulmonic stenosis, Epileptic encephalopathy	OMIM:614325
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Anterior pitui...	ORPHA:3157
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Short stature, Short neck, Cryptorchidism, Male pseudohermaphroditism, Patent ductus...	ORPHA:2282
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Tuberous Sclerosis Complex	Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Subependymal giant-cell astrocy...	ORPHA:805
Tarp Syndrome	Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Alpers-Huttenlocher Syndrome	Paraparesis, Spastic paraparesis	ORPHA:726
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Weight loss, Increased circulatin...	ORPHA:29073
Cowden Syndrome 5	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615108
Tangier Disease	Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly	ORPHA:31150
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Cryptorchidism, Respiratory insufficiency, Disproportionate short-limb shor...	OMIM:224410
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg...	ORPHA:84064
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Koolen-De Vries Syndrome	Vertebral fusion, Hypospadias, Short stature, Cryptorchidism, Kyphosis, Vertebral segmentation de...	ORPHA:96169
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Asplenia, Patent ductus arteriosus, Hypoplastic aortic arch, ...	OMIM:306955
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Short neck, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymp...	OMIM:235255
Gm2 Gangliosidosis, Ab Variant	Postnatal growth retardation, Short stature, Neurodegeneration, Cerebral atrophy	ORPHA:309246
Genitopatellar Syndrome	Hip contracture, Small scrotum, Short stature, Apnea, Cryptorchidism, Knee flexion contracture, A...	ORPHA:85201
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing, Hypomimic face	ORPHA:225147
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Brain atrophy	OMIM:613603
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Short stature, Short neck, Postnatal growth retardation, Crypto...	OMIM:613563
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Short neck, Dyspnea, Abnormal form of the vertebral b...	ORPHA:3015
Marden-Walker Syndrome	Abnormal penis morphology, Skeletal muscle atrophy, Severe short stature, Hypospadias, Camptodact...	ORPHA:2461
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth de...	ORPHA:1439
Scarf Syndrome	Bifid scrotum, Diastasis recti, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies...	OMIM:312830
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Respiratory distress, Hypospadias, Optic atrophy, Hypoplastic labia majora, Promin...	OMIM:123790
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Stroke, Abnormal posturing	ORPHA:268943
Khan-Khan-Katsanis Syndrome	Sacral dimple, Failure to thrive, Short stature, Patent ductus arteriosus after premature birth, ...	OMIM:618460
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Intrauterine grow...	ORPHA:2728
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis	OMIM:259440
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis	ORPHA:137834
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis	ORPHA:231445
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro...	OMIM:617827
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Tracheomalacia, Short neck, Kyphosis, Male pse...	ORPHA:140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Cryptorchidism, Periventricular nodular heterotopia, Poorly ossifie...	OMIM:619135
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity	ORPHA:584
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Myopathy, Br...	ORPHA:536545
Stevens-Johnson Syndrome	Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Dyspnea, Weight loss, Restrictive vent...	ORPHA:36426
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short stature, Kyphosis, Optic atrophy, Abnormality of neuronal migratio...	ORPHA:192
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Facial hypotonia, Intrinsic hand muscle atrophy, Hepatic fibr...	OMIM:615273
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A...	OMIM:614736
Alexander Disease	Diabetes mellitus, Facial palsy, Short neck, Precocious puberty, Hyperlordosis, Kyphosis, Respira...	ORPHA:58
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity	OMIM:272200
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Aspiration, Hyperh...	ORPHA:2131
Rothmund-Thomson Syndrome Type 1	Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Short st...	ORPHA:221008
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Hypospadias, Small for ...	OMIM:194190
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased response to growth hormone st...	ORPHA:1855
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atr...	OMIM:300894
Rift Valley Fever	Abnormal bleeding, Hematemesis, Paraparesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepa...	ORPHA:319251
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Interict...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Interict...	ORPHA:363958
Adnp Syndrome	Respiratory distress, Short stature, Cryptorchidism, Cerebral atrophy, Truncal obesity, Aspiration	ORPHA:404448
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Bilateral cryptorchidism, Patent ductus arte...	OMIM:616268
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Short stature, Splenomegaly, Patent ductus arteriosus, Hydrom...	OMIM:617088
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Kyphosis, Scoliosis	ORPHA:404440
Intellectual Developmental Disorder, Autosomal Dominant 56	Paraparesis, Pontocerebellar atrophy, Hypomimic face	OMIM:617854
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short stature, Short neck, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Cli...	OMIM:616894
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino...	ORPHA:3404
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Epileptic encephalopathy	OMIM:620073
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Ulnar-Mammary Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Cryptorchidism, Aplasia of the pecto...	ORPHA:3138
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Short neck, Postnatal growth retardation, Cryptorchi...	ORPHA:2896
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Flexion contracture, Weight loss, Hepatosplenomegaly, Lymphade...	ORPHA:85408
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,...	OMIM:619718
Fucosidosis	Hepatomegaly, Decreased muscle mass, Kyphosis, Abnormality of the gallbladder, Anterior beaking o...	ORPHA:349
Focal Myositis	Myositis, Weight loss	ORPHA:48918
2Q31.1 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Optic disc coloboma...	ORPHA:251014
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Respiratory insufficien...	ORPHA:1860
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Martin-Probst Syndrome	Bifid scrotum, Pancytopenia, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micrope...	OMIM:300519
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,...	OMIM:615919
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Myositis, Chronic active hepatitis, Lymphocytic interstitial pneu...	ORPHA:289390
Shashi-Pena Syndrome	Kyphosis, Patent ductus arteriosus, Limb hypertonia, Scoliosis, Cervical C2/C3 vertebral fusion, ...	OMIM:617190
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Cryptorchidism, Cerebral atrophy, Growth delay, Scoliosis, Shawl scrotum, Breast h...	OMIM:601353
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Fatal Familial Insomnia	Neuronal loss in central nervous system, Apnea, Abnormal autonomic nervous system physiology, Wei...	OMIM:600072
Myhre Syndrome	Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc...	ORPHA:2588
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Impotence, Neurodegeneration, Abnormal autonomi...	OMIM:146500
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Precoc...	ORPHA:96191
Holoprosencephaly	Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Diabetes insipidus, Congeni...	ORPHA:2162
Sarcoidosis	Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, Hemolytic anemia, Hepatomeg...	ORPHA:797
Larsen Syndrome	Short stature, Cryptorchidism, Respiratory insufficiency, Vertebral segmentation defect, Scoliosi...	ORPHA:503
Chronic Bilirubin Encephalopathy	Hepatic encephalopathy, Hemolytic anemia, Central apnea, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hepatic encephalopathy, Hemolytic anemia, Central apnea, Prolonged neonatal jaundice	ORPHA:529799
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts...	ORPHA:892
Noonan Syndrome	Hepatomegaly, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Abnormality of the sp...	ORPHA:648
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Vertebral segmentation defect...	ORPHA:96061
Weaver Syndrome	Diastasis recti, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Hydrocele testis, Scoliosis,...	OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Muscular dystrophy, Increased variability in muscle fiber diameter, Polymicr...	OMIM:616538
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation	OMIM:619793
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atrophy, Hepat...	OMIM:615688
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Short stature, Scoliosis	ORPHA:79107
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Tachypnea, Encephalopathy	OMIM:615751
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis	ORPHA:134
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Brain atrophy, Epileptic encephalopathy	OMIM:620194
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Scoliosis, Pulmonary arterial hyper...	OMIM:616449
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Pachygyria, Splenomegaly, Pulmonary l...	ORPHA:2136
Whim Syndrome	Sinusitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutrophil morphology, Bronchi...	ORPHA:51636
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2789
Noonan Syndrome With Multiple Lentigines	Scapular winging, Hypospadias, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the abdominal...	ORPHA:500
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Neoplasm of the gallbladder, O...	ORPHA:309271
Aymé-Gripp Syndrome	Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Cryptorchidism, Pat...	ORPHA:1272
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal salivary gland morphology	ORPHA:31
Lesch-Nyhan Syndrome	Testicular atrophy, Short stature, Megaloblastic anemia	OMIM:300322
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Weight loss, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Developmental And Epileptic Encephalopathy 38	Limb hypertonia, Aspiration, Epileptic encephalopathy	OMIM:617020
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochrom...	OMIM:162300
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Biotinidase Deficiency	Respiratory distress, Apnea, Spastic paraparesis, Limb muscle weakness, Hyperventilation	ORPHA:79241
Myoclonic-Astatic Epilepsy	Epileptic encephalopathy	ORPHA:1942
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Increased circulating IgG level, Emphysema, Hypo...	OMIM:619472
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age, Neonatal insulin-dependent di...	ORPHA:2255
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Gallbladder dysfunction, Optic atrophy, Cholecystitis	OMIM:250100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thromb...	OMIM:301074
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Aspiration pneumonia, Epileptic encephalopathy	ORPHA:95232
Noonan Syndrome 2	Short stature, Short neck, Cryptorchidism, Patent ductus arteriosus, Arthrogryposis multiplex con...	OMIM:605275
Fountain Syndrome	Short stature, Kyphosis, Abnormal form of the vertebral bodies, EEG abnormality, Scoliosis, Spina...	ORPHA:3219
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	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Myhre Syndrome	Vertebral fusion, Small for gestational age, Short stature, Short neck, Cryptorchidism, Patent du...	OMIM:139210
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Cryptorchidism, Optic atrophy, Scoliosis, Intrauterine growt...	ORPHA:2886
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Tangier Disease	Splenomegaly, Opacification of the corneal stroma	OMIM:205400
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Lymphatic Malformation 7	Respiratory distress, Varicose veins, Chylothorax, Pleural effusion, Anemia	OMIM:617300
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Short stature, Phimosis, Cryptorchidism, Throm...	OMIM:305000
Cystinosis, Nephropathic	Male infertility, Skeletal muscle atrophy, Hepatomegaly, Diabetes mellitus, Failure to thrive in ...	OMIM:219800
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Dyspnea, Weight loss, Cough, Pleural eff...	ORPHA:35687
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb...	ORPHA:2177
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Congenital diaphragmatic hernia, Cry...	ORPHA:2745
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Paraparesis, Generalized limb muscle atrophy...	ORPHA:2822
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Paraparesis, Dyspnea, L...	ORPHA:449427
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Abnormalit...	ORPHA:280
Central Diabetes Insipidus	Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmonary arteri...	ORPHA:71493
Dubowitz Syndrome	Sacral dimple, Aplastic anemia, Hypospadias, Short stature, Postnatal growth retardation, Cryptor...	OMIM:223370
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Hypermobile Ehlers-Danlos Syndrome	Apnea, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Cystocele, Aplasi...	ORPHA:285
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Poland Syndrome	Diabetes mellitus, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Kyph...	ORPHA:2911
Distal Duplication 17Q	Accessory spleen, Severe short stature, Rhizomelia, Short stature, Cryptorchidism, Scoliosis	ORPHA:3379
17Q12 Microdeletion Syndrome	Diabetes mellitus, Short stature, Cryptorchidism, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:261265
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Respiratory insuffi...	ORPHA:861
Toriello-Carey Syndrome	Neonatal respiratory distress, Short stature, Aganglionic megacolon, Short neck, Postnatal growth...	ORPHA:3338
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Apnea, Cerebral atrophy,...	OMIM:618426
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Diaphragmatic eventration, Intrauterine growth retardation, H...	OMIM:619488
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Patent ductus arteriosus	ORPHA:1338
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Kyphosis, Scapular winging, Scoliosis	OMIM:617061
Acute Transverse Myelitis	Orthostatic hypotension, Abscess, Subarachnoid hemorrhage, Paraparesis, Upper limb muscle weaknes...	ORPHA:139417
Noonan Syndrome 10	Short stature, Short neck, Cryptorchidism, Patent ductus arteriosus, Scoliosis, Left ventricular ...	OMIM:616564
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Hypoplasia of penis, Hepatomegaly, Hypospadias, Camptodactyly of finger, Supern...	ORPHA:373
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Weight loss	ORPHA:168811
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Liver Disease, Severe Congenital	Biliary hyperplasia, Abnormal left ventricular function, Hepatic encephalopathy, Leukopenia, Lymp...	OMIM:619991
Mend Syndrome	Sacral dimple, Short stature, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Fail...	ORPHA:401973
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp...	OMIM:615849
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Torticollis, Hypospadias, Overweight, Kyphosis, Jaundice, Multifocal ep...	OMIM:619475
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi...	ORPHA:478029
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Growth delay, Scoliosis	ORPHA:261144
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces...	OMIM:223800
Craniofrontonasal Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Scoliosi...	OMIM:304110
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr...	OMIM:619377
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Micropenis, Hepatic steatosis, Penoscrota...	OMIM:270400
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder dysfun...	ORPHA:330001
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Developmental And Epileptic Encephalopathy 29	Cerebral atrophy, Epileptic encephalopathy	OMIM:616339
Smith-Mccort Dysplasia 1	Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Cerebral Creatine Deficiency Syndrome 2	Paraparesis	OMIM:612736
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Short neck, Large f...	OMIM:229850
Osteogenesis Imperfecta, Type Iii	Kyphosis, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial hypertension, ...	OMIM:259420
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Epileptic encephalopathy, Global brain atrop...	OMIM:616457
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
X-Linked Adrenoleukodystrophy	Paraparesis, Progressive spastic paraparesis, Adrenal insufficiency, Leg muscle stiffness, Abnorm...	ORPHA:43
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis	ORPHA:309256
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Cardiorespirator...	OMIM:619424
Meier-Gorlin Syndrome 6	Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation...	OMIM:616835
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary...	ORPHA:90003
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Decreased female libido, Decreased circulating cortis...	ORPHA:95409
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis	ORPHA:309263
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Small for gestational age, Short stature, Chronic pancreatitis, Crypto...	OMIM:307030
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Ma...	ORPHA:464738
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypospadias, Aganglionic megacolon, Congenital diaphragmatic hernia, Short n...	ORPHA:818
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Jaberi-Elahi Syndrome	Kyphosis, Optic atrophy, Scoliosis, Failure to thrive, Cerebellar vermis atrophy	OMIM:617988
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
22Q11.2 Deletion Syndrome	Impaired T cell function, Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypoth...	ORPHA:567
Yellow Fever	Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Excessiv...	ORPHA:99829
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ...	ORPHA:64
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Splenomegaly, Cervical lymphadenopat...	ORPHA:50918
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Hypospadias, Small for gestational age, Congenital ...	ORPHA:1596
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Scapular winging, Optic atrophy, Distal amyotrophy, Neurodegeneration	OMIM:614298
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Meier-Gorlin Syndrome 5	Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda...	OMIM:613805
Ellis Van Creveld Syndrome	Failure to thrive, Hypospadias, Epispadias, Cryptorchidism, Acute leukemia, Neonatal short-limb s...	ORPHA:289
Citrullinemia Type Ii	Hepatomegaly, Hepatic encephalopathy, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatos...	ORPHA:247585
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Growth...	ORPHA:79404
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan...	ORPHA:99125
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R...	ORPHA:70595
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Diabetes mellitus, External genital hypoplasia, EEG with burst suppression, Crypto...	OMIM:614231
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Hem...	OMIM:151050
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Decreased muscle mass	OMIM:616507
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Optic atrophy, Hemivertebrae, Congenital hypothyroidis...	ORPHA:79500
Incontinentia Pigmenti	Keratitis, Cataract, Corneal opacity, Eosinophilia	ORPHA:464
Leopard Syndrome 1	Scapular winging, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Micrope...	OMIM:151100
Focal Dermal Hypoplasia	Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis	ORPHA:2092
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Trac...	OMIM:618280
Roberts Syndrome	Clitoral hypertrophy, Progressive flexion contractures, Short neck, Postnatal growth retardation,...	ORPHA:3103
Secondary Short Bowel Syndrome	Aganglionic megacolon, Cholestasis, Weight loss, Growth delay, Central hypothyroidism, Primary hy...	ORPHA:95427
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension	ORPHA:100050
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Short neck, Large for gestational age, Flexion contracture, Hemivert...	ORPHA:96334
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:440437
Dysostosis, Stanescu Type	Short stature, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Respiratory distress, Hematemesis, Lymphadenitis, S...	ORPHA:707
Auriculocondylar Syndrome	Respiratory distress, Vein of Galen aneurysmal malformation	ORPHA:137888
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Neuroblastoma, Susceptibility To, 1	Anemia, Failure to thrive, Horner syndrome, Weight loss	OMIM:256700
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Facial...	ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Pineal cyst, Left ventricular...	OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel...	ORPHA:268261
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Abnormal autonomic nervous s...	OMIM:614575
Webb-Dattani Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:615926
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Scoliosis, Ambiguous geni...	ORPHA:1300
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis,...	ORPHA:955
Hypercalcemia, Infantile, 1	Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Hajdu-Cheney Syndrome	Hypospadias, Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Patent ductus arteriosus,...	OMIM:102500
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona...	OMIM:177170
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Hermansky-Pudlak Syndrome	Menometrorrhagia, Epistaxis, Dyspnea, Weight loss, Neutropenia	ORPHA:79430
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal...	ORPHA:449395
Osteogenesis Imperfecta	Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Flexion contracture, Hy...	ORPHA:666
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Kyphosis, Moderate postnatal growth retardation, Vertebral segmentation def...	ORPHA:1005
Granulomatosis With Polyangiitis	Sinusitis, Diabetes insipidus, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficienc...	ORPHA:900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vaginal neoplasm, Abnormality of the female genitalia, Dyspnea, Weight loss, Aspiration pneumonia...	ORPHA:1018
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:144
Rat-Bite Fever	Back pain, Parotitis, Lymphadenitis, Tendonitis, Weight loss, Pancreatitis, Anemia	ORPHA:31205
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Growth delay, Supernumerary v...	OMIM:263750
Choreoacanthocytosis	Hepatomegaly, Caudate atrophy, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, P...	ORPHA:2388
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Torticollis, Oligozoospermia	OMIM:314300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los...	ORPHA:100075
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio...	OMIM:613795
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Developmental And Epileptic Encephalopathy 103	Epileptic encephalopathy	OMIM:619913
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Elbow contracture, Cryptorchidism, Patent ductus arterios...	OMIM:617137
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Neonatal asphyxia, Patent ductus arteriosus, Dy...	ORPHA:141127
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contra...	OMIM:619194
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Shor...	OMIM:259050
Fontaine Progeroid Syndrome	Small scrotum, Hypoplasia of the abdominal wall musculature, Intrauterine growth retardation, Mic...	OMIM:612289
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100080
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Short stature	OMIM:610536
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati...	ORPHA:95455
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ectopic posterior pituitary, Thoracic scoliosis, Small for gestational age,...	ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, F...	OMIM:309590
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity	ORPHA:579
Granulomatosis With Polyangiitis	Sinusitis, Respiratory insufficiency, Weight loss, Granulomatosis, Cough, Rhinorrhea	OMIM:608710
Meier-Gorlin Syndrome 7	Hypospadias, Short stature, Cryptorchidism, Growth delay, Vertebral segmentation defect, Breast a...	OMIM:617063
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Paraparesis, Acute encephalopathy, Anemia	OMIM:620358
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Short stature, Postnatal growth retar...	ORPHA:138
Developmental And Epileptic Encephalopathy 84	Epileptic encephalopathy	OMIM:618792
Autoimmune Pulmonary Alveolar Proteinosis	Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:33577
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En...	ORPHA:201
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Obesity	ORPHA:261222
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anemia	ORPHA:324
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration, Hypomimic face	OMIM:606159
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos,...	ORPHA:2473
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Kyphosis, Moderately short st...	OMIM:119600
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Camptodactyly of finger, Short neck, Asplenia, Cry...	OMIM:249000
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Abscess, Anemia, Aplasia of the sweat gland...	ORPHA:642
Mosaic Trisomy 20	Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert...	ORPHA:1724
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Short stature, Optic nerve hypoplasia, Cryptorchidism, Micropenis	OMIM:610125
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Skeletal muscle hypertrophy, Subdural hemorrhage	OMIM:619714
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97283
Mucopolysaccharidosis Type 3	Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma	ORPHA:581
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Hepatomegaly, Optic atrophy, Adrenal insufficiency	OMIM:614863
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress...	ORPHA:652
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Kyphosis, Platyspondyly, Short stature	OMIM:616294
Fryns Syndrome	Corneal opacity	ORPHA:2059
Behçet Disease	Myositis, Pulmonary embolism, Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Pleural effus...	ORPHA:117
Rett Syndrome, Congenital Variant	Kyphosis, Simplified gyral pattern, EEG abnormality, Scoliosis, Aspiration, Pachygyria	OMIM:613454
Megalocornea-Intellectual Disability Syndrome	Short stature, Kyphosis, EEG abnormality, Scoliosis, Hypothyroidism	ORPHA:2479
Larsen Syndrome	Vertebral fusion, Short stature, Cervical kyphosis, Cryptorchidism, Spondylolysis, Scoliosis, Tra...	OMIM:150250
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short stature, Short neck, Lymphangioma, Recur...	ORPHA:99646
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Congestive heart failure, Microvesicular hepatic steatosis, Jaundice, Chole...	OMIM:617156
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100082
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Optic atrophy, Lower limb hypertonia, Pont...	ORPHA:171629
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Hemobilia, Abnormal gallbladder morphology, Neoplasm of the ...	ORPHA:512
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Acanthocytosis, Optic atrophy, Myopathy, Neurodegeneration, Cerebral degen...	OMIM:234200
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Robinow Syndrome	Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, Small for ge...	ORPHA:97360
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
Giant Cell Arteritis	Epistaxis, Mediastinal lymphadenopathy, Optic atrophy, Weight loss, Cough, Diabetes insipidus	ORPHA:397
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Transient ischemic attack, Coronary...	ORPHA:51608
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Short stature, Cryptorchidism, Kyphosis, Respiratory insufficiency, Anemia, ...	ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Flexion contracture, Microlissencephaly, Knee flexion contracture, Micropenis, Pachyg...	OMIM:210710
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Gaucher Disease	Pancytopenia, Corneal opacity, Tremor, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:355
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity	OMIM:150800
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Sco...	OMIM:618050
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Uterus didelphys, Gray matter heteroto...	OMIM:618820
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Sacral dimple, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis...	ORPHA:1507
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Optic nerve hypoplasia, Cryptorchidism, Coronal clef...	OMIM:620025
Developmental And Epileptic Encephalopathy 2	Hyperventilation, Epileptic encephalopathy	OMIM:300672
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Weight loss	ORPHA:654
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Prominent ...	OMIM:300966
Chronic Graft Versus Host Disease	Pancytopenia, Phimosis, Dyspnea, Wheezing, Flexion contracture, Pneumothorax, Bronchiectasis, Wei...	ORPHA:99921
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgen...	ORPHA:284339
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He...	OMIM:607330
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough	ORPHA:97349
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Tachypnea, Hepatitis, Acute encephalopathy, Cerebral cortical atrophy	ORPHA:415
Tay-Sachs Disease	Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia	ORPHA:845
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty...	OMIM:208150
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity	ORPHA:1052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte...	OMIM:201750
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Micr...	ORPHA:457359
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract	OMIM:253800
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97280
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
15Q14 Microdeletion Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:261190
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Sacral dimple, Short stature, Thoracolumbar scoliosis, Abnormal cortical gy...	ORPHA:480880
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Diphallia	Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp...	ORPHA:227
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi...	OMIM:137920
Turner Syndrome Due To Structural X Chromosome Anomalies	Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insuffi...	ORPHA:99413
Mosaic Monosomy X	Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insuffi...	ORPHA:99228
Monosomy X	Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insuffi...	ORPHA:99226
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula...	OMIM:300942
Turner Syndrome	Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insuffi...	ORPHA:881
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Cryptorchidism, Kyphosis	ORPHA:536532
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemiverteb...	ORPHA:672
Moebius Syndrome	Corneal opacity	ORPHA:570
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Hypoventilation, Short stature, Apnea, Breathing dysregulation, Precocious pub...	ORPHA:438213
Juvenile Dermatomyositis	Calcinosis, Myositis, Dyspnea, Weight loss, Restrictive ventilatory defect, Cough	ORPHA:93672
Meckel Syndrome	Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Ma...	ORPHA:564
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Severe short stature, Camptodactyly of finger, Thyroid agenesis, Cryptorchidi...	ORPHA:3047
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity	OMIM:253200
Gerstmann-Straussler Disease	Cerebellar atrophy, Lower limb muscle weakness, Weight loss	OMIM:137440
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Neurofibromatosis Type 1	Short stature, Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of the endocrine system,...	ORPHA:636
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Cerebral cortical...	OMIM:277400
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Paraparesis, Flexion contracture, Aspiration, Abnormality of ...	ORPHA:98889
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension	OMIM:613834
Kinsship Syndrome	Respiratory arrest, Brain atrophy, Epileptic encephalopathy	OMIM:619297
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Cole-Carpenter Syndrome	Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re...	ORPHA:2050
Yao Syndrome	Asthma, Weight loss	OMIM:617321
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insufficiency, Growth delay, Ambiguo...	OMIM:617641
Kufor-Rakeb Syndrome	Paraparesis, Torticollis, Leg muscle stiffness	OMIM:606693
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Anhidrosis, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands,...	OMIM:305100
Zttk Syndrome	Absent gallbladder, Short stature, Kyphosis, Patent ductus arteriosus, Flexion contracture, Optic...	OMIM:617140
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypoplasia of the abd...	OMIM:267000
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Dystonia	ORPHA:79255
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Growth delay, Shawl scrotum, Micropenis	OMIM:600460
Monosomy 9Q22.3	Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality o...	ORPHA:77301
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Congenital diaphragmatic hernia, Rhabdo...	ORPHA:116
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorc...	OMIM:309000
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica...	ORPHA:221098
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm...	ORPHA:97278
Mend Syndrome	Sacral dimple, Short stature, Cryptorchidism, Kyphosis, Failure to thrive	OMIM:300960
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Aganglionic megacolon, Camptodactyly of finger, Cryptorchidism, Kyphosis, G...	ORPHA:2273
Oeis Complex	Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ves...	OMIM:258040
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated circul...	ORPHA:79318
Postinfectious Vasculitis	Viral hepatitis, Pneumonia, Increased circulating IgA level, Orchitis, Abnormality of the periphe...	ORPHA:48435
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Diastasis recti, Short neck, Rhizome...	OMIM:261540
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Hypospadias, Aganglionic megacolon, Ankle flexion contr...	ORPHA:821
Hereditary Late-Onset Parkinson Disease	Weight loss, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunction, Hyp...	ORPHA:411602
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Witteveen-Kolk Syndrome	Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Congenital diap...	OMIM:613406
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Cholestatic liver disease, Weight loss	ORPHA:92050
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anemia	ORPHA:52417
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Dystonia	OMIM:251300
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Developmental And Epileptic Encephalopathy 49	Epileptic encephalopathy	OMIM:617281
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Premature thelarche, Autoimmune thrombocytopenia, Postnatal grow...	OMIM:147920
Chime Syndrome	Corneal opacity, Acute leukemia	ORPHA:3474
Wrinkly Skin Syndrome	Decreased muscle mass, Short stature, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidis...	ORPHA:2834
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Osteosarcoma	Weight loss	ORPHA:668
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Coffin-Siris Syndrome 1	Sacral dimple, Hypospadias, Short stature, Congenital diaphragmatic hernia, Postnatal growth reta...	OMIM:135900
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Double Outlet Left Ventricle	Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Tachypnea	ORPHA:3427
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging, Intrauterine growth retardation	OMIM:616914
Acrodermatitis Enteropathica	Failure to thrive, Short stature, Cerebral cortical atrophy, Weight loss	ORPHA:37
Floating-Harbor Syndrome	Hypospadias, Small for gestational age, Kyphoscoliosis, Short neck, Precocious puberty, Cryptorch...	ORPHA:2044
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Ramon Syndrome	Optic disc pallor, Short stature, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight	OMIM:266270
Polyarteritis Nodosa	Weight loss	ORPHA:767
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis	OMIM:619557
Wrinkly Skin Syndrome	Scapular winging, Short stature, Hypoplasia of the musculature, Cryptorchidism, Kyphosis, Scolios...	OMIM:278250
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610217
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Rhizome...	OMIM:143095
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Optic atro...	OMIM:309580
Dermatomyositis	Abnormal eosinophil morphology, Respiratory insufficiency, Weight loss, Inflammatory myopathy, Pu...	ORPHA:221
Floating-Harbor Syndrome	Hypospadias, Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Glandular hypospadias, Ep...	OMIM:136140
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Cap Polyposis	Weight loss	ORPHA:160148
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat...	OMIM:601992
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Failure to thrive, Scoliosis	ORPHA:476126
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Hypospadias, Facial hypotonia, Supernumerary nipple,...	OMIM:312870
Williams Syndrome	Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina ...	ORPHA:904
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive, Short stature	OMIM:239000
Cono-Spondylar Dysplasia	Kyphosis, Failure to thrive, Scoliosis, Short neck	ORPHA:420794
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Diastasis recti, Crypt...	OMIM:130650
Proboscis Lateralis	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:141099
Cdags Syndrome	Kyphosis, Hypospadias, Rectovaginal fistula	OMIM:603116
17Q11 Microdeletion Syndrome	Short stature, Rhabdomyosarcoma, Precocious puberty, Kyphosis, Glomus jugular tumor, Pulmonary ar...	ORPHA:97685
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Small intestine c...	ORPHA:100078
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Oculoectodermal Syndrome	Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma	OMIM:600268
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Respiratory failure, Weight loss	ORPHA:679
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration	ORPHA:79244
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217085
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Ankle flexion contracture, Short neck, Post...	OMIM:268300
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217093
Liposarcoma	Weight loss	ORPHA:69078
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Mowat-Wilson Syndrome	Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Hypospadias, Short statur...	ORPHA:2152
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decrease...	OMIM:182210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration...	OMIM:619482
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss	ORPHA:309031
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Large for gestational age, Hyperlordosis, Kyphosis, Scoliosis, Cerebral corti...	OMIM:617011
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy...	OMIM:249420
Johanson-Blizzard Syndrome	Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Short stature, Urethrova...	OMIM:243800
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
African Trypanosomiasis	Papilledema, Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine syste...	ORPHA:3385
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Obesity, Nasal flaring	ORPHA:466943
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Short stature, Repeated pneumothoraces, Spontaneous pneumothorax, Cryptorchidism...	OMIM:130050
Osteogenesis Imperfecta, Type Iv	Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Genitopatellar Syndrome	Hip contracture, Small scrotum, Enlarged labia minora, Periventricular heterotopia, Cryptorchidis...	OMIM:606170
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchidism, Kypho...	OMIM:113620
Vascular Ehlers-Danlos Syndrome	Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Cryptorchidism, Respira...	ORPHA:286
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Encephalopathy	ORPHA:1183
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Osteogenesis Imperfecta, Type Viii	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress...	OMIM:610915
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Anemia, ...	OMIM:233450
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium	ORPHA:910
Paget Disease Of Bone 2, Early-Onset	Paraparesis	OMIM:602080
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Megalocornea, Opacification of the corneal stroma	OMIM:252500
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ...	OMIM:236700
Wiedemann-Rautenstrauch Syndrome	Tremor, Cataract, Corneal opacity, Action tremor	ORPHA:3455
Oculodentodigital Dysplasia	Paraparesis, Arrhythmia, Joint contracture of the 5th finger	OMIM:164200
Neurofibromatosis, Familial Spinal	Paraparesis, Lower limb muscle weakness	OMIM:162210
Pancreatoblastoma	Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Osteoporosis-Pseudoglioma Syndrome	Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve...	OMIM:259770
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Acquired Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:95626
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Cerebral atrophy, Epileptic encephalopathy	OMIM:300896
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus, Chylothorax	OMIM:153400
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Short stature, Kyphosis, Tracheomalacia, Intrauterine growth retar...	ORPHA:1393
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Renal tubular epithelial necrosis, Weight loss, Increased circula...	ORPHA:91500
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Hypospadias	ORPHA:85199
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Coffin-Lowry Syndrome	Short stature, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse	OMIM:303600
Digeorge Syndrome	Sclerocornea, Splenomegaly, Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Thrombocytop...	OMIM:188400
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Small for gestational age, ...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Occipital Horn Syndrome	Growth delay, Kyphosis, Orthostatic hypotension, Platyspondyly	OMIM:304150
Yunis-Varon Syndrome	Cataract, Sclerocornea	ORPHA:3472
Occipital Horn Syndrome	Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis	ORPHA:198
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Reactive Arthritis	Respiratory insufficiency, Weight loss	ORPHA:29207
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ...	OMIM:300106
Split Cord Malformation	Paraparesis, Distal lower limb muscle weakness	ORPHA:573278

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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Parl^{tm43824(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Parl^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Parl^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Parl^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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