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Gene: Ebf2 MGI:894332

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Gene Summary

Name:
early B cell factor 2
Synonyms:
O/E-3,  D14Ggc1e,  Mmot1

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal facial morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Ebf2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal head shape Ebf2em1(IMPC)Mbp HOM E18.5 0.00
small spleen Ebf2em1(IMPC)Mbp HET Early adult 0.00
impaired glucose tolerance Ebf2em1(IMPC)Mbp HET Early adult 4.99×10-06
abnormal kidney morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Ebf2em1(IMPC)Mbp HET Late adult 0.00
shortened QT interval Ebf2em1(IMPC)Mbp HET Early adult 2.00×10-05
abnormal spleen morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
shortened ST segment Ebf2em1(IMPC)Mbp HET Early adult 3.23×10-05
enlarged kidney Ebf2em1(IMPC)Mbp HET Late adult 0.00
no spontaneous movement Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal blood vessel morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal skin morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal brain morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
female infertility Ebf2em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Ebf2em1(IMPC)Mbp HET E18.5 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

50 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Ebf2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ebf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Idiopathic Hypersomnia
Hypersomnia, Excessive daytime somnolence, Sleep disturbance ORPHA:33208
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Narcolepsy Type 2
Excessive daytime somnolence, Insomnia, Sleep disturbance ORPHA:83465
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Narcolepsy 1
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Narcolepsy OMIM:161400
Narcolepsy 3
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Narcolepsy OMIM:609039
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Advanced Sleep Phase Syndrome, Familial, 2
Early chronotype, Sleep-wake cycle disturbance OMIM:615224
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Advanced Sleep Phase Syndrome, Familial, 1
Early chronotype, Sleep-wake cycle disturbance OMIM:604348
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Delayed Sleep Phase Disorder, Susceptibility To
Insomnia OMIM:614163
Short Sleep, Familial Natural, 2
Shortened sleep cycle OMIM:618591
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Narcolepsy 7
Excessive daytime somnolence, Narcolepsy OMIM:614250
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Melorheostosis With Osteopoikilosis
Multiple lipomas, Complete duplication of the distal phalanges of the hand, Abnormal cortical bon... ORPHA:1879
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Dispr... OMIM:200700
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Cryptorchidism, Dystonia, Motor axonal neuropathy, Premature pubarche, Cerebra... ORPHA:457205
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Peripheral demyelination, Difficulty walking, Motor conduction block... ORPHA:2932
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesi... OMIM:614963
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Short stature, Joint contracture of the hand, Os... OMIM:264010
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Slender long bones with narrow ... OMIM:608154
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... OMIM:156230
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Short stature, Decreased nerve conduction velocity, Premature ... ORPHA:2928
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Disproportionate short stature, Abnormality of epiph... ORPHA:2501
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive, Disproportionate... OMIM:600121
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Restless Legs Syndrome, Susceptibility To, 1
Insomnia, Restless legs, Sleep disturbance OMIM:102300
Ethanolaminosis
Cardiomegaly OMIM:227150
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... OMIM:611228
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal periventricular white matter morphology, Abnormal motor nerve conduction veloc... OMIM:618404
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Paresthesia, Impaired tactile sensation, Difficulty walking, Decreased nerve conduction velocity,... ORPHA:435387
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Sh... OMIM:616113
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Hypergonadotropic hypogonadi... OMIM:604168
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Impa... OMIM:618912
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Mesomelia, ... OMIM:249700
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short stature, Postnatal growth ... OMIM:618728
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Charcot-Marie-Tooth Disease Type 1A
Sensory ataxia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... ORPHA:101081
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Nathalie Syndrome
Abnormal EKG OMIM:255990
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Falls, Distal sensory impairment OMIM:614228
Dystonia 30
Hypothalamic hamartoma, Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dysto... OMIM:619291
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Abnormal cerebral white matter morphology, Ataxia, Unsteady ... OMIM:159550
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Decreased amplitude of sensory action potentials, Impaired vibration sensation at an... ORPHA:90103
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Ataxia, Cerebellar atrophy, Periventricular leukomalacia, Progressive leukoencephalopat... OMIM:615889
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Ataxia, Abnormal cerebellum morp... ORPHA:280234
Cednik Syndrome
Pachygyria, Ataxia, Abnormal corpus callosum morphology, Polymicrogyria, Short stature, Abnormali... ORPHA:66631
Craniopharyngioma
Proportionate short stature, Abnormal hypothalamus morphology, Enlarged pituitary gland, Growth d... ORPHA:54595
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Short stature, Hip dislocat... OMIM:605274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Elbow flexion co... OMIM:601559
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... ORPHA:352675
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Corpus callosum atrophy, Hypsarrhythmia, Hypoplasia of the corpus callosum, Abnor... ORPHA:565624
Spinocerebellar Ataxia 38
Cerebellar atrophy OMIM:615957
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Frontotemporal cerebral ... ORPHA:101001
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Decreased nerve conducti... ORPHA:1188
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Spinocerebellar Ataxia Type 31
Cerebellar atrophy ORPHA:217012
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Excessive daytime somnolence, Narcolepsy OMIM:604121
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Severe... ORPHA:2635
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Spinocerebellar Ataxia 31
Cerebellar atrophy OMIM:117210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Gait disturbance, Abnormal motor evoked potentials, Somatic sensory dysfunctio... ORPHA:99939
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Spinocerebellar Ataxia 37
Cerebellar atrophy OMIM:615945
Familial Expansile Osteolysis
Bowing of the long bones, Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300554
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... OMIM:612447
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly, Ataxia ORPHA:404493
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Abnormal cortical bone morphology, Arth... ORPHA:1525
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Enlargement of the ankles, Subperiosteal bone resorption, M... OMIM:264700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Ataxia, Cerebellar atrophy, Dysmetria, F... OMIM:618356
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Eosinophilia, Cardiogenic ... ORPHA:75565
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired tactile sensati... ORPHA:99953
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocardial infarction, Cerebr... ORPHA:90065
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Dystonia With Cerebellar Atrophy
Cerebellar atrophy OMIM:611694
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Enlargement of the ankles, Subperiosteal bone resorption, M... OMIM:277440
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy OMIM:616187
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Distal sensory impairment, Decreased nerve conduction vel... OMIM:615284
Narcolepsy Type 1
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Sleep disturbance ORPHA:2073
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Paresthesia, Ataxia, Intrauterine growth retardation,... ORPHA:48431
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Choreoatheto... ORPHA:98890
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Warburg Micro Syndrome 4
Inability to walk, Cryptorchidism, Decreased motor nerve conduction velocity, Perisylvian polymic... OMIM:615663
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101078
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... ORPHA:90647
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardiac death, Myocardial i... OMIM:610947
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Short stature, Failure to thrive, Intrauterine growth retardatio... ORPHA:261483
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hereditary Motor And Sensory Neuropathy V
Difficulty walking, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dist... OMIM:600361
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Craniosynostosis, ... ORPHA:356961
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary... ORPHA:231720
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Agyria, Micropenis, Agenesis of corpus callosum... OMIM:300067
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Cerebellar atrophy, Testicular atrophy OMIM:613909
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy OMIM:301020
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Abnormal cerebra... OMIM:302800
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Cataract-Ataxia-Deafness Syndrome
Short stature, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Gait ataxia, Impaired vibratory sensation, Difficulty ... ORPHA:3115
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbanc... ORPHA:101077
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Wide anterior fontanel, Overlapping toe, Micrognathia, Fibular hypoplasia, Clinodac... OMIM:201170
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Caffey Disease
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperost... ORPHA:1310
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Impaired distal vibration sensation, Dist... OMIM:614436
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Postnatal g... ORPHA:289157
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... ORPHA:99944
Meningioma
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Obesity, Ataxia, Neoplasm of the... ORPHA:2495
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Mesomelic short stature, Short tibia, Ulnar bowing OMIM:127350
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Monosomy 5P
Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Small hand, In... ORPHA:281
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Basal lamina onion bulb formation, Dif... OMIM:614895
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of peripheral myelinated... OMIM:180800
Multiple Epiphyseal Dysplasia With Robin Phenotype
Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,... OMIM:601560
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Testicular atrophy, Cerebellar atrophy, Male infertility ORPHA:276183
Grant Syndrome
Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal cort... ORPHA:2097
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Abn... ORPHA:1263
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Oligodactyly, Tarsal synostosis, Short 4th finger,... ORPHA:2756
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:618876
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia, Femoral bo... OMIM:615066
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Hypertrophic Neuropathy Of Dejerine-Sottas
Sensory ataxia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelina... OMIM:145900
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Abnormal periventricular white matter morphology, Peripheral demyelination, Decrease... OMIM:249900
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Gait dist... OMIM:603472
Filippi Syndrome
Cryptorchidism, Dystonia, Ambiguous genitalia, Postnatal growth retardation, Decreased body weigh... OMIM:272440
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Intr... OMIM:251230
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... OMIM:610198
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Chorea, Gait disturbance, Abnormal nerve conduction velocity, Brady... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Decreased motor nerve conduction velocity, Postnatal growth retardation, Microcep... OMIM:615419
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Cerebellar atrophy, Basal ganglia calcification, Short stature, Decreased nerve conductio... OMIM:610651
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300009
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia, Bradykinesia OMIM:183050
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy ORPHA:98769
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal ... OMIM:601455
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal senso... OMIM:606595
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Distal sensory impairment, Decreased nerve conduction velocity OMIM:302802
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Panc... ORPHA:730
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Hemolytic anemia, Neutropenia, ... ORPHA:398124
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Growth delay, Hypoph... ORPHA:289176
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Combined Oxidative Phosphorylation Defect Type 13
Abnormal corpus striatum morphology, Decreased nerve conduction velocity, Abnormal corpus callosu... ORPHA:319514
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Mild short stature, Short middle phalanx... OMIM:156500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Choreoathetosis, Growth delay, Decreased nerve conduction velocity OMIM:614932
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Orthostatic hypotensio... ORPHA:2822
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Peripheral axonal neuropathy, Short stature, Distal sensory impairment, Premature ... OMIM:618124
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Weismann-Netter Syndrome
Squared iliac bones, Severe short stature, Fibular bowing, Calvarial hyperostosis, Anterior tibia... OMIM:112350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... OMIM:118200
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Impaired distal vibration sensation, Abnormal sensory nerve ... ORPHA:276435
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia, Cerebral calcification, Cachexia, Short stature, Mic... ORPHA:1933
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, ... OMIM:603516
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Sho... ORPHA:988
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... ORPHA:99950
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Decreased motor nerve conduction velocity, Cerebral white matter atrophy, Loss... OMIM:610532
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Decreased motor nerve conduction velocity OMIM:615575
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Abnormal cerebral white matter morphology, Waddling gait, Axonal degeneration, Decreased nerve co... OMIM:618138
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Impaired pain sensation, Decreased amplitude of sensory action potentials, Tr... OMIM:164400
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism, Torticollis, Leu... OMIM:613724
Osteogenesis Imperfecta, Type Ii
Broad long bones, Absent ossification of calvaria, Recurrent fractures, Tibial bowing, Crumpled l... OMIM:166210
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Microcephaly, De... OMIM:618160
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Micrognathia, Short middle phalanx o... OMIM:211920
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Supernumerary nipple, Micropenis, Agenesis of corpus ... OMIM:618929
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Trigonocephaly, Prominent metopic ridge OMIM:275595
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Paresthes... ORPHA:298
Ck Syndrome
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Leukodystrophy, Hypomyelinating, 2
Dystonia, Decreased motor nerve conduction velocity, Cerebral atrophy, Head titubation, Ataxia, S... OMIM:608804
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Cardiomyopathy OMIM:613313
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, Is... ORPHA:759
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Umbilical herni... OMIM:617952
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Bradykinesia, Weight loss, Cerebral co... ORPHA:157941
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Hemochromatosis, Type 4
Arrhythmia, Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy OMIM:606069
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy OMIM:617917
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Primary ame... ORPHA:135
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impair... OMIM:612674
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... ORPHA:481
Bruck Syndrome 2
Flexion contracture, Osteopenia, Inguinal hernia, Increased susceptibility to fractures, Knee fle... OMIM:609220
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Melnick-Needles Syndrome
Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bones, Omphalocele, Abnorma... ORPHA:2484
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Micrognathia, Increased bone mineral density, Abnormal diaphysis morpholo... ORPHA:85184
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Impaired vibration sensation at ankles, Gait disturbance, Cerebral cortical atrophy, De... ORPHA:101006
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hyperecho... ORPHA:456312
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased n... ORPHA:101082
Primary Parathyroid Hyperplasia
Shortened QT interval, Pancreatitis ORPHA:99878
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Macrovesi... OMIM:617303
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Optic atrophy ORPHA:99014
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Synovitis, Reduced bone... ORPHA:85435
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Ataxia, Unsteady gait, Cerebellar atrophy, Decreased nerve conduction velocity,... OMIM:256600
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Failure to thrive, Peripheral demyelination... OMIM:245200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated hepatic transaminase, Enlarged kidney, Macrovesicular ... OMIM:608836
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607706
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Peripheral demyelination, Decreased nerve conduction velocity, Peripheral hypomye... OMIM:609136
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short stature, Short tibia OMIM:258865
Osteosarcoma
Osteolysis, Weight loss, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphy... ORPHA:668
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... ORPHA:139578
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment OMIM:607684
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, Growth delay, Abnormal thalamic MRI signal intensity, Cerebellar atrophy, EEG abn... ORPHA:485421
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... OMIM:618646
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Bradykinesia, Basal ganglia calcification, Generalized dysto... OMIM:618824
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Bone Marrow Failure Syndrome 5
Hypogonadism, Microcephaly, Testicular atrophy, Short stature OMIM:618165
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory nerve conduction vel... OMIM:619026
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Paresthesia, Impa... ORPHA:101085
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Small han... ORPHA:93324
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior fontanel, Decreased calvari... OMIM:259420
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Paresthesia, Dysesthesia, Axonal loss, Decrease... ORPHA:85446
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Gait disturbance, Decreased distal sensory nerve action potential, ... OMIM:618400
Autoinflammation With Episodic Fever And Lymphadenopathy