Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta vasculature Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal vitreous body morphology Ebf2em1(IMPC)Mbp HET   Late adult 2.48×10-05
no spontaneous movement Ebf2em1(IMPC)Mbp HET E18.5 0.00
abnormal blood vessel morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
enlarged spleen Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal facial morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
small spleen Ebf2em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal heart morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Ebf2em1(IMPC)Mbp HOM   Early adult 0.00
shortened ST segment Ebf2em1(IMPC)Mbp HET Early adult 2.16×10-05
enlarged kidney Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
female infertility Ebf2em1(IMPC)Mbp HOM Early adult 0.00
abnormal head shape Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal spleen morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal brain morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Ebf2em1(IMPC)Mbp HET Late adult 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 Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

50 Images

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
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Narcolepsy 1
Excessive daytime somnolence, Narcolepsy, Sleep paralysis, Abnormal rapid eye movement sleep OMIM:161400
Idiopathic Hypersomnia
Excessive daytime somnolence, Hypersomnia, Sleep disturbance ORPHA:33208
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Narcolepsy 3
Excessive daytime somnolence, Narcolepsy, Abnormal rapid eye movement sleep OMIM:609039
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Advanced Sleep Phase Syndrome, Familial, 2
Early chronotype, Sleep-wake cycle disturbance OMIM:615224
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Narcolepsy 7
Excessive daytime somnolence, Narcolepsy OMIM:614250
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... OMIM:614963
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Enlarged e... OMIM:264010
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... OMIM:156230
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... ORPHA:1972
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, Inability to walk, Decreased nerve conduction vel... ORPHA:457205
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... OMIM:127300
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... OMIM:600121
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Abolished vi... ORPHA:435387
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Ethanolaminosis
Cardiomegaly OMIM:227150
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:618912
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Distal se... OMIM:608323
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Insomnia, Sleep disturbance OMIM:102300
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation, Central... OMIM:616113
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction ve... ORPHA:101081
Null Syndrome
Abnormal cerebellum morphology, Ataxia, Inability to walk, Decreased nerve conduction velocity, O... ORPHA:280234
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... OMIM:609311
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Short stature, Hypergonadotropic hypogonadism, Hypogonadotrop... OMIM:604168
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... OMIM:607706
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... DECIPHER:29
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Mult... ORPHA:1879
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... ORPHA:54595
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Excessive daytime somnolence, Narcolepsy OMIM:604121
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... ORPHA:1802
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foo... OMIM:605274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Periphe... ORPHA:99939
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:302801
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Abnormal motor nerve conductio... OMIM:618404
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Short stature, Truncal obesity, Gait disturbance, Premature ... ORPHA:2928
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Impaired vibratory sensation, Decreas... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:605588
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... OMIM:159550
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy OMIM:616187
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Impaired pain sensation ORPHA:101078
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... ORPHA:98890
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... ORPHA:1505
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morphology of ulna... ORPHA:3344
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... ORPHA:231720
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... OMIM:600882
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Nathalie Syndrome
Abnormal EKG OMIM:255990
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature OMIM:608278
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micrope... OMIM:308750
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly, Short stature OMIM:300484
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Ce... OMIM:618356
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy, Dist... OMIM:600361
Roussy-Lévy Syndrome
Limb ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sen... ORPHA:3115
Cednik Syndrome
Ataxia, Short stature, Optic atrophy, Hypogonadism, Abnormality of peripheral nerve conduction ORPHA:66631
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Short stature ORPHA:1368
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... OMIM:601382
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Gait ... ORPHA:101077
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Ataxia, Cerebellar atrophy, Azoospermia OMIM:613909
Slc35A2-Cdg
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Short stature, Osteopenia... ORPHA:356961
Monosomy 5P
Recurrent fractures, Microretrognathia, Inguinal hernia, Short stature, Small hand, Abnormality o... ORPHA:281
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Meningioma
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... ORPHA:2495
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... OMIM:145900
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... OMIM:613641
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Distal sensory impairment, Decreased nerve conduction velocity, Peripheral demy... ORPHA:99944
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Paresth... ORPHA:48431
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... OMIM:601560
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia ORPHA:276183
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Unsteady gait, Impaired vibratory sensation ORPHA:139536
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Mesomelic short stature, Short forearm OMIM:127350
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Autosomal Recessive Spastic Paraplegia Type 21
Gait disturbance, Abnormality of peripheral nerve conduction, Abnormal cerebellum morphology, Dif... ORPHA:101001
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity, Distal sensory impai... OMIM:615284
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Microgn... OMIM:201170
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Short stature, Slen... OMIM:619795
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Caffey Disease
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... OMIM:114000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Decreased num... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... OMIM:251230
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Warburg Micro Syndrome 4
Inability to walk, Micropenis, Short stature, Severe postnatal growth retardation, Decreased moto... OMIM:615663
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Prolonged Q... ORPHA:90065
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:302802
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Short stature, Synostosis of carpal bones, Abnormality of fibula... ORPHA:988
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity ORPHA:640
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased amplitude... OMIM:616688
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Tip-toe gait, Axonal degeneration, Onion bulb formation, Decreased motor nerve conduct... OMIM:302800
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... ORPHA:2235
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... OMIM:606595
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Impaired distal vibration sensation, Inability to walk, Abnormal sensory nerve ... ORPHA:276435
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, D... ORPHA:98755
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Cryptorchidism, Decreased motor nerve conduction vel... OMIM:615419
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Cerebellar atrophy, Abnormal nerve conduct... OMIM:619862
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Loss of ambulation, EEG abnormality, Decreased nerve conduction v... ORPHA:565624
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... OMIM:118200
Weismann-Netter Syndrome
Severe short stature, Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior ti... OMIM:112350
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... ORPHA:99950
Kallmann Syndrome
Ataxia, Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amen... ORPHA:478
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity OMIM:183050
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Irregular acetabular roof, Genu valg... OMIM:156500
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... ORPHA:970
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Spinocerebellar atrophy, Decreased sensory nerve conduction veloci... OMIM:164400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Proportionate short st... ORPHA:759
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk ORPHA:431329
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Renal tubular at... OMIM:617303
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Spast... OMIM:270685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Short stature, Micromelia, Abnorma... ORPHA:1508
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short... OMIM:607143
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... ORPHA:83468
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Short stature, Optic atrophy, Cerebellar atrophy, Hy... OMIM:610651
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, G... OMIM:603472
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P... ORPHA:101082
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... ORPHA:85435
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:118300
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Gait disturbance, Erectile dysfunction, Decreased ... ORPHA:481
Dystonia 30
Loss of ambulation, Hypothalamic hamartoma OMIM:619291
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Supernumerary nipple, Micropenis OMIM:618929
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Optic atrophy, Gait disturbance, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:99014
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Orofaciodigital Syndrome Ix
Short stature, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... ORPHA:85170
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminas... ORPHA:858
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Decreased nerve conduction velocity OMIM:612577
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Ataxia, EEG abnormality, Decreased sensory nerve conduction velocity, Aplasia/... ORPHA:456312
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93324
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short stature, Short tibia, Micrognathia, Brachydactyly, Short finger, Cli... OMIM:258860
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... ORPHA:139578
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... ORPHA:464329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Osteosarcoma
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... ORPHA:668
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait, Facial palsy OMIM:607684
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Dysmetria, Distal sensory impairment, Optic atrophy,... OMIM:612674
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... ORPHA:298
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Absent brainstem auditory responses, Decreased number of large periphera... ORPHA:101085
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Paresthesi... ORPHA:85446
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... OMIM:603516
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... ORPHA:101070
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Postnatal growth retar... OMIM:614732
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Sensory ataxia, Decreased sensory nerve conduction velocity, Short stature, Decreased motor nerve... OMIM:616192
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Clinodactyly of the 5th finger, Short ... ORPHA:231144
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Decreased nerve conduction velocity, Short stature ORPHA:1933
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:276700
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Decreased distal sensory nerve action potential, Impaired distal tactile sensat... OMIM:618400
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Disproportionate short-limb short sta... OMIM:259420
Yuan-Harel-Lupski Syndrome
Broad-based gait, Failure to thrive, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:616652
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... OMIM:613313
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Atelosteogenesis Type Iii
Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Hand clenching, Knee dislocation, Dis... ORPHA:56305
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal cementum morphology, Abnormal trabecular bone morphology, Abno... ORPHA:83451
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Orthostatic hypotension, Peripheral axonal neuropathy, Gait disturbanc... ORPHA:2822
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity, Spastic gait, Distal sensory impairment ORPHA:100998
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Combined Oxidative Phosphorylation Defect Type 13
Failure to thrive, Choreoathetosis, Intrauterine growth retardation, Decreased nerve conduction v... ORPHA:319514
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Postnatal growth retardation, Joint hyperfle... ORPHA:2324
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of thalamus morphology OMIM:613724
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormal ... ORPHA:485421
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Short stature, Hypothalamic hypothyroidism OMIM:275120
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Acroparesthesia, Decr... ORPHA:206443
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... OMIM:600002
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... ORPHA:93160
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Ca... OMIM:617713
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, Primary amenorrhea, ... ORPHA:135
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short statu... OMIM:171480
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Krabbe Disease
Failure to thrive, EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Periphera... OMIM:245200
Huntington Disease-Like 1
EEG abnormality, Dysmetria, Chorea, Gait disturbance, Gait ataxia, Cerebellar atrophy, Weight los... ORPHA:157941
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Severe short stature, Peripheral axona... OMIM:619851
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Short stature, Inguinal hernia, Osteopenia, Femoral bow... OMIM:609220
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Sh... ORPHA:1988
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, T2 hypointense thalamus, EEG with generalized epileptiform discharges,... ORPHA:1947
Neonatal Severe Primary Hyperparathyroidism