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Gene: Ebf2 MGI:894332

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Gene Summary

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

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 skin morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal head shape Ebf2em1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Ebf2em1(IMPC)Mbp HOM   Early adult 0.00
small spleen Ebf2em1(IMPC)Mbp HET Early adult 0.00
impaired glucose tolerance Ebf2em1(IMPC)Mbp HET Early adult 4.44×10-06
enlarged kidney Ebf2em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal vitreous body morphology Ebf2em1(IMPC)Mbp HET   Late adult 2.53×10-05
abnormal placenta vasculature Ebf2em1(IMPC)Mbp HOM E18.5 0.00
abnormal blood vessel morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
enlarged heart Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
shortened QT interval Ebf2em1(IMPC)Mbp HET Early adult 2.56×10-05
abnormal brain morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal facial morphology Ebf2em1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Ebf2em1(IMPC)Mbp HET E18.5 0.00
abnormal liver morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
female infertility Ebf2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Ebf2em1(IMPC)Mbp HET Late adult 0.00
decreased locomotor activity Ebf2em1(IMPC)Mbp HET Early adult 9.04×10-07
abnormal retina morphology Ebf2em1(IMPC)Mbp HET Early adult 6.55×10-05
shortened ST segment Ebf2em1(IMPC)Mbp HET Early adult 1.85×10-05
no spontaneous movement Ebf2em1(IMPC)Mbp HOM 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 Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

50 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E18.5

Images

7 Images

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Histopathology

Images

2 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
Narcolepsy 1
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Paroxysmal drowsiness, Hypnagogi... OMIM:161400
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Narcolepsy 3
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Paroxysmal drowsiness, Hypnagogi... OMIM:609039
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Narcolepsy 7
Obstructive sleep apnea, Excessive daytime somnolence, Hypnagogic hallucination, Sleep paralysis,... OMIM:614250
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Idiopathic Hypersomnia
Excessive daytime somnolence, Hypersomnia, Hypnagogic hallucination, Hypnopompic hallucination, S... ORPHA:33208
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu... OMIM:619902
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Generalized lipodystrophy, Short stature, Failure to thrive, Slender build, Slender l... ORPHA:50811
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Bow... ORPHA:2501
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Chronic Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Fall... ORPHA:2932
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh... OMIM:617974
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens... OMIM:601098
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hypergonadotropic hypogonadism, Impaired vibr... OMIM:613724
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Abnormal rapid eye movement sleep, Excessive daytime somnolence, Hypnagogic hallucination, Sleep ... OMIM:604121
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Premature pubarche, Inability to walk, Abnorm... ORPHA:457205
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D... OMIM:615198
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Failure to thrive, S... OMIM:600121
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Tip-toe gait, Steppage gait, Difficulty walking, Distal sensory impairment, Gait imbalance, Decre... ORPHA:435387
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:600081
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Steppage gait, Difficulty walking, Distal sensor... ORPHA:206594
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Difficulty walking, Impaired pain sensation, Decreased amplitude of sensory action potentials, Im... OMIM:618912
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo... OMIM:618392
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Postnatal g... ORPHA:54595
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Multiple lipomas, Abnormal cortical bon... ORPHA:1879
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment... ORPHA:352675
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Gait disturbance, Ataxia, Limb dysmetria, Dysmetria ORPHA:94125
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... OMIM:618728
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Decreased nerve conduction velocity, Gait disturbance, Short sta... ORPHA:2928
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas... ORPHA:90103
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Gait imbalance, Spontaneo... ORPHA:101081
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Genu valgum, Truncal obesity, Broad femoral head, Short... OMIM:620639
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Abnorm... ORPHA:280234
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Decreased fibular diamete... OMIM:619489
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral ... ORPHA:93356
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:620111
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Ataxia, Testicular atrophy OMIM:613909
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Abnormal motor nerve ... OMIM:618404
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult... OMIM:608323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Absent thumb, Aplasia/Hypoplasia of th... OMIM:612447
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:302801
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Kleine-Levin Hibernation Syndrome
Episodic hypersomnia OMIM:148840
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair... OMIM:607684
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas... ORPHA:356961
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Steppage gait, Decreased nerve conduction velocity, Inability to walk, Gait disturbance, Somatic ... ORPHA:99939
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Hypergonadotropic hypogonadism, Decreased testicular size, Short stature, Ataxia, Primary... OMIM:604168
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Distal sensory impairment, Inability to walk, Impaired dista... ORPHA:99948
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait, Impaired distal vibration sensation, Im... OMIM:610100
Tremor, Hereditary Essential, 6
Cerebellar atrophy OMIM:618866
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t... OMIM:159550
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy OMIM:618412
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment, Somatic sens... OMIM:615376
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Ataxia, Gait disturbance ORPHA:101078
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxia, Choreoatheto... ORPHA:98890
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Meningioma
Impotence, Decreased circulating cortisol level, Ataxia, Abnormal hypothalamus physiology, Focal ... ORPHA:2495
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Femoral bowing, Hyp... OMIM:620076
Monosomy 5P
Inguinal hernia, Finger syndactyly, Abnormality of bone mineral density, Intrauterine growth reta... ORPHA:281
Charcot-Marie-Tooth Disease, Type 4H
Distal sensory impairment, Waddling gait, Unsteady gait, Decreased motor nerve conduction velocit... OMIM:609311
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:264700
Cednik Syndrome
Optic atrophy, Short stature, Ataxia, Hypogonadism, Abnormality of peripheral nerve conduction ORPHA:66631
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:277440
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Nathalie Syndrome
Abnormal EKG OMIM:255990
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Impaired pain sensation, Impaired vibrat... DECIPHER:29
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Mic... OMIM:610198
Roussy-Lévy Syndrome
Limb ataxia, Difficulty walking, Impaired temperature sensation, Impaired pain sensation, Gait at... ORPHA:3115
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Distal sensory impairment, Impaired distal proprioception, Cerebellar atrophy, Ata... OMIM:607250
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Cataract-Ataxia-Deafness Syndrome
Short stature, Decreased nerve conduction velocity, Ataxia ORPHA:1368
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Gait disturbance, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ... OMIM:201170
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:606595
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, C... OMIM:616040
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Caffey Disease
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Periosteal thickening of lon... OMIM:114000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating... ORPHA:2235
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Gait disturbance, Decreased motor nerve conduction velocit... ORPHA:101077
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Short stature, Ataxia, Intrauterine growth retardation, Abnormality of peripheral nerve c... ORPHA:48431
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Sudden ... OMIM:610947
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:118210
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal cerebellum morphology, Difficulty walking, Abnormality of peripheral nerve conduction, G... ORPHA:101001
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Sensory ataxia, Decreased motor nerve conduction velocity OMIM:618184
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:600361
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Difficulty walking, Distal sensory impairment, G... ORPHA:99953
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Ataxia, Abnormal nerve conduction velocity, Gait disturbance ORPHA:101075
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati... OMIM:607706
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Steppage gait, Decreased sensory nerve conduction velocity, Distal sensory impairm... OMIM:609260
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st... ORPHA:988
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:300009
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Spermatogenic Failure 17
Male infertility OMIM:617214
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormal cerebellum morphology... ORPHA:565624
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Kennedy Disease
Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula... ORPHA:481
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Neonatal hypoglycemia, Bradycardia, ST segment elevation, Cardiomyopath... OMIM:261740
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Severe sh... OMIM:112350
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Feingold Syndrome 2
Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short s... OMIM:614326
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Decreased compound muscle action potential amplitude, Impaired distal tactile sens... OMIM:600882
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, V... OMIM:613641
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Charcot-Marie-Tooth Disease, Type 4B3
Loss of ambulation, Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance OMIM:615284
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance ORPHA:99944
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment OMIM:302802
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi... OMIM:251230
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Intrauterine growth retardation, Decreased motor ner... OMIM:615419
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Thromboc... ORPHA:398124
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar atrophy, Failure to thrive, A... OMIM:618356
Warburg Micro Syndrome 4
Optic atrophy, Inability to walk, Severe postnatal growth retardation, Cerebellar atrophy, Decrea... OMIM:615663
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Short stature, Recurrent fractures, Increased susceptibility to fract... OMIM:615066
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Short stature, Ataxia, Hy... OMIM:610651
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Abnormal sensory nerve ... ORPHA:276435
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Decreased nerve conduction velocity, Choreoathetosis OMIM:614932
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, I... OMIM:601455
Cach Syndrome
Limb ataxia, T2 hypointense thalamus, Gonadal dysgenesis, Premature ovarian insufficiency, Optic ... ORPHA:135
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spinocerebellar Ataxia Type 1
Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Abnormal n... ORPHA:98755
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Postnatal growth retardation, Delayed epiphyseal ossifica... ORPHA:289157
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Difficulty walking, Distal sensory impairment, Impaired distal proprioception, Impaired distal vi... OMIM:616688
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G... OMIM:614895
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Abnormal nerve conduction velocity, Cerebellar atrophy, Gait ataxia, Somatic sensory... OMIM:619862
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, Falls, Cere... OMIM:270550
Orofaciodigital Syndrome Ix
Camptodactyly, Short stature, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg... OMIM:617303
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Short stat... OMIM:258860
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Spinocerebellar Ataxia 1
Limb ataxia, Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity,... OMIM:164400
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Interhypothalamic adhesion, Supernumerary nipple OMIM:618929
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Clinodactyly of the 5th finger, Severe intrauterine growth retardat... ORPHA:231144
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:605588
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Waddling gait, First degree atrioventricular block, Atrioventricular block, Lo... OMIM:310300
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk ORPHA:431329
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Decreased nerve conduction velocity, Truncal ataxia, Dysdiadochokinesis, Failure to... OMIM:238970
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Calvarial osteosclerosis, Decreased skull ossification, Thin long b... ORPHA:93324
Dystonia 30
Hypothalamic hamartoma, Loss of ambulation OMIM:619291
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Decreased motor nerve conduction velocity, Froment sign, Hypoesthesia OMIM:162500
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:605285
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
Charcot-Marie-Tooth Disease Type 4D
Distal sensory impairment, Inability to walk, Decreased amplitude of sensory action potentials, U... ORPHA:99950
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Loss of ambulation, Gait ataxia OMIM:249900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Abnormal thalamic MRI signal intensity, Decreased nerve conduction velocity, Hypsa... ORPHA:485421
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ... OMIM:608747
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Weight loss, Pathologic f... ORPHA:668
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Gait disturbance, Ataxia, Decreased motor nerve cond... OMIM:603472
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Combined Oxidative Phosphorylation Defect Type 13
Intrauterine growth retardation, Decreased nerve conduction velocity, Choreoathetosis, Failure to... ORPHA:319514
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Short stature, Abnormality of visual evoked potent... ORPHA:1933
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Decreased sensory nerve conduction velocity, Hyperechogenic pancreas, Aplasia/Hy... ORPHA:456312
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ... ORPHA:101070
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Cerebellar atrophy... OMIM:612674
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped... OMIM:307800
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Distal sensory impairment, Impaired distal vibration sensation, Decr... OMIM:614436
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Ataxia, Sensory, 1, Autosomal Dominant
Gait instability, worse in the dark, Impaired distal proprioception, Positive Romberg sign, Dyses... OMIM:608984
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Migraine, Familial Hemiplegic, 1
Drowsiness, Coma OMIM:141500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity OMIM:605253
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Im... OMIM:270685
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Abnormal motor nerve conduction velocity OMIM:158580
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Somatic sensory dysfunction OMIM:612577
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Postnatal growth retardation, Osteopenia, 2-3 toe syndactyly, Joint hypermobility, Recurrent frac... ORPHA:2324
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Gait disturbance, Ataxia ORPHA:99014
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Postnatal growth retardation, Epiphyseal dysplasia, Metaphyseal dysplasia, Intrauteri... OMIM:614732
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Prolonged QT interval, Hypoketotic hypoglycemia, Fa... ORPHA:71212
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c... OMIM:608836
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c... ORPHA:206443
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased te... OMIM:616113
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Abnor... ORPHA:83451
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
Spinocerebellar Ataxia 10
Limb ataxia, Decreased nerve conduction velocity, Distal sensory impairment, Progressive cerebell... OMIM:603516
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho... ORPHA:2634
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Abolished vibration sense OMIM:620068
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Steppage gait, Decreased nerve conduction velocity, Inabili... ORPHA:101085
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma... ORPHA:99429
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Failure to thrive, Short humerus, S... OMIM:607143
Hypoglycemia, Leucine-Induced
Drowsiness, Coma OMIM:240800
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Cachexia, Hypergonadotropic hypogonadism, Weight los... ORPHA:298
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment, Gait disturb... OMIM:118300
Kniest Dysplasia
Rhizomelia, Inguinal hernia, Tracheomalacia, Delayed epiphyseal ossification, Splayed epiphyses, ... OMIM:156550
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Acute pancreatitis, Premat... ORPHA:466677
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, S... ORPHA:1988
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ... OMIM:166210
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu... ORPHA:93160
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Cerebellar atrophy, Sensory ataxia, Gait ataxia, Sho... OMIM:616192
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Osteogenesis Imperfecta, Type Viii
Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Dis... OMIM:610915
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Hypertrophic Neuropathy Of Dejerine-Sottas
Steppage gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, Broad-base... OMIM:145900
Wild Type Abeta2M Amyloidosis
Dysesthesia, Decreased nerve conduction velocity, Decreased amplitude of sensory action potential... ORPHA:85446
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Elbow flexion contracture, Femoral bowing, Short stature, Flexion co... OMIM:609220
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Inability to walk, Gait... ORPHA:2822
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Huntington Disease-Like 1
Abnormal posturing, Chorea, Cerebellar atrophy, Gait disturbance, Gait ataxia, Weight loss, EEG a... ORPHA:157941
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Difficulty walking, Distal sensory impairment, Cerebellar atrophy, Gait disturbance... OMIM:302800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal sensory impairment, Gait ataxia OMIM:180800
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Jaundice, Prolo... ORPHA:57777
Omodysplasia 1
Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Fibular... OMIM:258315
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Abnormality of pattern visual evoked potentials, Inability to walk, Cere... ORPHA:1947
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia ORPHA:1177
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal sensory impairment OMIM:608673
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Somatic sensory dysfunction ORPHA:101082
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Iron deficiency anemia, Maternal diabetes, Diabe... ORPHA:358
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Shortened QT interval, Pancreatic adenocarcinoma ORPHA:99880
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Abnormality of visual evo... OMIM:256600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Inguinal hernia, Multiple suture craniosynostosis, Short stature, S... ORPHA:3369
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Parathyroid Carcinoma
Pancreatitis, Shortened QT interval, Pancreatic adenocarcinoma ORPHA:143
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Spinocerebellar Ataxia, Autosomal Recessive 23
Hypersomnia OMIM:616949
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Spinocerebellar Ataxia 4
Cerebellar atrophy OMIM:600223
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Erlenmeyer flask de... ORPHA:210110
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus, A... OMIM:606069
Acromicric Dysplasia
Decreased nerve conduction velocity, Severe short stature ORPHA:969
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary ame... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion, Growth delay, Severe short stature, Intraut... OMIM:619057
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Short foot, Micrognathia, Obesity, Intrauterine growth ... ORPHA:254525
Duplication Of The Pituitary Gland
Short stature, Abnormal hypothalamus morphology, Decreased body weight, Abnormal pituitary gland ... ORPHA:314621
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Impaired pain sensation, Decreased motor nerve conduction velocity, Abnormal autonomic nervous sy... ORPHA:139578
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Steppage gait, Difficulty walking, Distal sensory impa... OMIM:604563
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Thalamic calcification, Cerebellar dentate nucleus calcification, Ataxia, Dysmetria, Hypo... OMIM:618317
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Clinodactyly, Obesit... ORPHA:254531
Multiple Endocrine Neoplasia Type 1
Hematemesis, Neoplasm of the pancreas, Melena, Hypertension, Insulinoma, Shortened QT interval, T... ORPHA:652
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Failure to thrive, Loss of ambulation, Female inf... OMIM:619518
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Fail... OMIM:245200
Friedreich Ataxia
Optic atrophy, Congestive heart failure, Limb ataxia, Hypertrophic cardiomyopathy, Gait ataxia, A... OMIM:229300
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, EEG with foca... OMIM:617302
47,Xyy Syndrome
Male infertility, Dysgenesis of the cerebellar vermis, Increased serum testosterone level, Hyposp... ORPHA:8
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Cardiac-Urogenital Syndrome
Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul... OMIM:618280
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Cachexia, Cerebellar atrophy, Failure to thrive, Ataxia ORPHA:363717
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Distal sensory impairment, Abnormal motor nerve conduction velocity ORPHA:100998
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Short stature, Mi... ORPHA:314795
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr... OMIM:200995
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Abnormal cerebell... OMIM:610532
Valinemia
Drowsiness OMIM:277100
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Severe postnatal growth retardation, Abnormal... OMIM:216400
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Prolonged QT interval, Hepatomegaly, Hypoketotic hypoglycemia, Ventricular fibrillation... ORPHA:26793
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Waddling gait OMIM:618138
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sanda... OMIM:206920
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short ... ORPHA:2502
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involv... ORPHA:221016
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, D... ORPHA:370022
Sialidosis Type 1
Decreased nerve conduction velocity, Gait disturbance, Short stature, Ataxia, EEG abnormality ORPHA:812
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephro... ORPHA:505248
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:118220
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Decreased compound muscle action potential amplitude, Facial palsy, Cryptorchidism, ... OMIM:301830
Charcot-Marie-Tooth Disease Type 1E
Steppage gait, Difficulty walking, Distal sensory impairment, Gait imbalance, Impaired temperatur... ORPHA:90658
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Me... OMIM:613320
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal sensory impairment, Impaired distal vibration sensation, Decreased compound muscle action ... OMIM:619519
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Athyreosis
Hypersomnia ORPHA:95713
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity, Broad-based ... OMIM:609033
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Osteoporosis, Severe short stature, Recurrent fractures OMIM:126550
Epilepsy, Hot Water, 1
Drowsiness OMIM:613339
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Chronic rhinitis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
African Trypanosomiasis
Sleep-wake cycle disturbance, Coma, Abnormal rapid eye movement sleep, Excessive daytime somnolen... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Thalamic calcification, Cerebellar calcifications OMIM:615483
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Growth delay, Cryptorchidism OMIM:619908
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Sandhoff Disease, Juvenile Form
Hypersomnia, Insomnia ORPHA:309162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons OMIM:615181
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232200
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Paresthe... ORPHA:2959
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Severe short stature, Joint... OMIM:615777
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Facial palsy, Head titubation, Ataxia, Decreased motor nerve conduction velocity, ... OMIM:608804
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Distal sensory impairment, Inability to walk, Abnormal perip... ORPHA:90117
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s... OMIM:214400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W... OMIM:617925
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine growth retard... OMIM:210720
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Neonatal hypoglycemia, Prolonged QT interval, Hypochromic microcytic anemia, Micro... ORPHA:66634
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... ORPHA:221008
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia... ORPHA:2909
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Postnatal growth retardation, Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses,... OMIM:611717
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Clinodactyly of the 5th finger, Severe postnatal growth retardation... ORPHA:73272
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607734
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Gait disturbance, Decreased testicular siz... ORPHA:457240
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... ORPHA:432
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Facial palsy, Abnormal medulla oblongata morphology, Abnormal ... ORPHA:68
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Gait ataxia, ... OMIM:616878
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Inability to walk, Diabetes insipidus, Abn... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Inability to walk, Diabetes insipidus, Abn... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Inability to walk, Diabetes insipidus, Abn... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Inability to walk, Diabetes insipidus, Abn... ORPHA:93924
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Distal sensory impairment, Inability to walk, Decreased amplitude of sensory actio... ORPHA:98856
Panhypophysitis
Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morphogenesis, De... ORPHA:95513
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:118200
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Gait ataxia, Fa... OMIM:616652
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe... OMIM:618433
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Dysdiadochok... ORPHA:254881
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction veloc... OMIM:619026
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Intrauterine growth retardation, Failure to thrive, Decreased nerve conduction velocity, Small fo... OMIM:604320
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Cryptorchidism, Growth delay OMIM:614857
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Cerebellar calcifications, Thalamic calcification OMIM:618824
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Short stature, Mirror image foo... OMIM:119800
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Rhombencephalosynapsis
Aganglionic megacolon, Abnormal dentate nucleus morphology, Septo-optic dysplasia, Fusion of the ... ORPHA:59315
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Obstructive sleep apnea ORPHA:293987
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Steppage gait, Difficulty walking, Distal sensory impairment, Decreased compound muscle action po... OMIM:618279
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance, Weight loss, Optic disc pa... ORPHA:216866
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Cellulitis, Crani... ORPHA:89936
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal bone ossification, Generalized bone demineralization, Abno... ORPHA:73230
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Hypoglycemic seizures, Prolonged QT interval, Ataxia, Arrhythmia, Hypoglycemia, Ab... ORPHA:480864
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Hyperinsulinemia, Bradycardia, Atrial fibrillation, Splenome... OMIM:613327
Niemann-Pick Disease Type C
Narcolepsy, Sleep abnormality ORPHA:646
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Steppage gait, Difficulty walking, Decreased compound muscle action potential amplitude, Broad-ba... OMIM:620528
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Impaired pain sensation, Increased body weight, Short stature... OMIM:182290
Friedreich Ataxia
Limb ataxia, Optic atrophy, Impaired proprioception, Gait imbalance, Inability to walk, Falls, Ch... ORPHA:95
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim... ORPHA:1652
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, ... OMIM:620366
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s... ORPHA:247768
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal proprioce... OMIM:162400
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Distal sensory impairment, Aganglionic megacolon, Short-segm... OMIM:609136
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607831
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Cockayne Syndrome B
Optic atrophy, Postnatal growth retardation, Decreased nerve conduction velocity, Severe failure ... OMIM:133540
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypsarrhythmia, Failure to thrive, Decreased thalamic volume OMIM:613668
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:79312
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly ORPHA:1532
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Occipital encephalocele OMIM:614416
Pallister-Hall-Like Syndrome
Chiari type I malformation, Anterior hypopituitarism, Hypothalamic hamartoma, Short stature, Micr... OMIM:241800
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, El... ORPHA:1329
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Difficulty walking, Gait disturbance, Cryptorchidism... ORPHA:90321
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Postpoliomyelitis Syndrome
Hypersomnia, Sleep abnormality ORPHA:2942
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Steppage gait, Distal sensory impairment, Positive Romberg sign, Abnormality of vi... OMIM:601152
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo... ORPHA:140
Three M Syndrome 1
Postnatal growth retardation, Clinodactyly of the 5th finger, Spina bifida occulta, Slender long ... OMIM:273750
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Gait apraxia, Gait ataxia, Abnormal T-wave OMIM:312750
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea... OMIM:615630
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Truncal titubation, Positive Romberg sign, Impaired vibration sensation ... ORPHA:88628
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Mulibrey Nanism
Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastom... OMIM:253250
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Loss of ambulation, Arrhyt... OMIM:310200
Silver-Russell Syndrome 3
Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, Short statur... OMIM:616489
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ... ORPHA:3320
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Severe short stature OMIM:619851
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Li... OMIM:313400
Familial Hyperaldosteronism Type Iii
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage ORPHA:251274
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Short sta... OMIM:166220
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Saul-Wilson Syndrome
Postnatal growth retardation, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the... OMIM:618150
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera... ORPHA:251004
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Dandy-Walker malformation, Cerebellar dysplasia, Hypoplasia of the pons, Agenesi... OMIM:613153
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Postnatal growth retardation, Short clavicles, Loss of subcutaneous adipose tissue in... OMIM:248370
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Hepatosplenomegaly, Hypoplasia o... ORPHA:93400
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist... ORPHA:168569
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal cerebellar peduncle morphology, Chol... ORPHA:909
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Ataxia, Hypoplasia of the pons ORPHA:467166
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul... ORPHA:79328
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, EEG abnormality, Gait disturbance OMIM:618193
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Pai Syndrome
Nasal polyposis, Midline defect of the nose, Depressed nasal bridge, Encephalocele ORPHA:1993
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Gait disturbance, Ataxia OMIM:250100
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Tibial bowing, Bowing of th... OMIM:613848
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio... OMIM:613640
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal ... ORPHA:397590
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Osteopetrosis, Autosomal Recessive 7
Growth delay, Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Vocal Cord And Pharyngeal Distal Myopathy
Unsteady gait, Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment ORPHA:600
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Hypothyroidism, Growth delay, Ataxia, Diabetes mellitus, Testi... OMIM:222300
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Abnormality of vis... ORPHA:309256
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Chorea, Abnormality of vi... ORPHA:309271
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Positive Romberg s... ORPHA:99949
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Cockayne Syndrome
Delayed puberty, Optic atrophy, Postnatal growth retardation, Difficulty walking, Decreased nerve... ORPHA:191
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, Coronal... OMIM:616294
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Difficulty walking ORPHA:329478
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Hypersomnia ORPHA:95715
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Tibial bowing, A... ORPHA:352540
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Abnormal thalamic MRI signal intensity, Difficulty walking, Distal sensory impairm... ORPHA:254930
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ... ORPHA:93315
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Gait disturbance... ORPHA:35069
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl... ORPHA:79259
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hereditary Sensory And Autonomic Neuropathy Type 1
Steppage gait, Distal sensory impairment, Gait imbalance, Impaired temperature sensation, Trophic... ORPHA:36386
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Mandibuloacral Dysplasia
Lipoatrophy, Postnatal growth retardation, Short clavicles, Loss of subcutaneous adipose tissue i... ORPHA:2457
Seckel Syndrome 1
Postnatal growth retardation, Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped ep... OMIM:210600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr... OMIM:201475
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Distal sensory impairment, Bro... ORPHA:477817
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren... OMIM:255120
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Chorea, Impaired distal vibration ... OMIM:606002
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Difficulty walking ORPHA:397725
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Positive R... OMIM:614575
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Myotonic Dystrophy 1
Facial diplegia, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Clinodactyly of the 5th finger, Rhizomelia, Wid... OMIM:228520
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:2926
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... OMIM:201300
Craniosynostosis 2
Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal... OMIM:604757
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Elevated circulating... OMIM:305400
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis OMIM:612247
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Rhizomelia, Flared meta... OMIM:608940
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def... ORPHA:500095
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Thrombocytopenia, Anemia ORPHA:231111
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, EEG with spike-wave complexes, Interictal EEG abnormality... ORPHA:363558
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
X-Linked Charcot-Marie-Tooth Disease Type 2
Steppage gait, Distal sensory impairment, Optic neuropathy, Gait disturbance, Decreased motor ner... ORPHA:101076
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans... ORPHA:42
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Postnatal growth retardation, Joint hypermobility, Adducted thumb, Hernia, Intrauteri... OMIM:616603
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Impaired distal proprioception, Impaired d... OMIM:157640
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis OMIM:614935
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Inability to walk, Broad-based gait OMIM:615490
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cachexia, Facial diplegia, Cerebellar atrophy OMIM:618186
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomega... ORPHA:290
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Adrenal insufficiency OMIM:614863
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly OMIM:618774
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput OMIM:618736
Kleine-Levin Syndrome
Sleep paralysis, Episodic hypersomnia, Hypnagogic hallucination ORPHA:33543
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Bone Marrow Failure Syndrome 5
Short stature, Testicular atrophy, Hypogonadism, Growth delay OMIM:618165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic rhinitis OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Nasal polyposis OMIM:620197
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet... OMIM:211350
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post... OMIM:263520
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentration, Secundum atr... OMIM:620609
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Facial palsy, Waddling gait, Decreased compound muscle action potential ampli... OMIM:603511
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Retinopath... ORPHA:552
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Gait imbalance, Truncal obesity, Abnormality of the ovary, Nephrogenic dia... OMIM:209900
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Tibial bowing, Camptodactyly... OMIM:231070
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Gait disturbance, Abnormality of visual evoked... ORPHA:512
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Tibial Hemimelia
Absent tibia OMIM:275220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Decreased thalamic volume OMIM:619072
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ... ORPHA:3144
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Retinal degeneration, Abnormal renal physiology OMIM:266500
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Microphthalmia, Syndromic 3
Postnatal growth retardation, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic gait, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action po... OMIM:256840
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega... ORPHA:91138
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Gait disturbance, Bilateral cryptorchidism,... ORPHA:2754
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy... ORPHA:231222
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Cerebellar atrophy, Facial palsy, Inability to walk OMIM:128100
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Gait disturbance, Broad-based gait OMIM:300352
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Inability to walk, Cerebellar vermis hypoplasia, Optic nerve hypopl... ORPHA:300570
Ogden Syndrome
Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic... OMIM:300855
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Finger syndact... ORPHA:958
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Premature ov... ORPHA:96179
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prog... ORPHA:309263
Inherited Creutzfeldt-Jakob Disease
Hypersomnia, Insomnia ORPHA:282166
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti... OMIM:170390
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Cerebellar atrophy, Interictal EEG abnormality, Loss of am... ORPHA:79264
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ... OMIM:614921
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Nasal congestion, Nasal polyposis OMIM:616037
Campomelic Dysplasia
Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, T... OMIM:114290
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput OMIM:618672
Primary Lateral Sclerosis, Juvenile
Spastic gait, Loss of ambulation, Decreased compound muscle action potential amplitude OMIM:606353
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebellar atrophy, Bile duct proliferation, Failure to thri... OMIM:261515
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Dolichocephaly OMIM:615433
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ... OMIM:617713
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Insulin resistan... ORPHA:230
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Interictal epileptiform activity, Abnormal thalamus morpho... ORPHA:79139
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... ORPHA:31826
Hsd10 Disease
Optic atrophy, Abnormal social behavior ORPHA:391417
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Frontal bossing, Craniosynostosis ORPHA:314575
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity, Impaired proprioception, Abnormal cranial nerve morpholog... ORPHA:79138
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Dolichocephaly ORPHA:272
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Retinal degeneration, Abnormal concentr... ORPHA:391428
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu... OMIM:603671
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Cryptorchidism ORPHA:404440
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Optic nerve hypoplasia, Decreased thalamic volume, Dilated fourth... ORPHA:370959
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cereb... ORPHA:2570
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Unsteady gait, Fusion of the left and right thalami OMIM:617542
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis OMIM:615444
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, EEG with focal epileptiform discharges, Ataxia, Decreased motor nerve conduction v... ORPHA:1187
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Unsteady gait OMIM:618733
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Fixed Subaortic Stenosis
Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ... ORPHA:3092
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Epistaxis, Subarachnoid hemorrhage, Th... OMIM:185070
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, Primary amenorr... OMIM:233420
Kleefstra Syndrome 2
Plagiocephaly OMIM:617768
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Boomerang Dysplasia
Absent radius, Fibular aplasia, Severe short stature, Hypoplastic iliac body OMIM:112310
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Plagiocephaly OMIM:618330
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Postprandial hyperglycemia, Ventricular fibrillation, Palpitations, Shorte... ORPHA:79102
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
Aceruloplasminemia
Limb ataxia, Abnormal thalamic MRI signal intensity, Akinesia, Abnormal pancreas morphology, Chor... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Umbilical hernia OMIM:615834
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopla... ORPHA:3464
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Chorea, Titubation, Gait disturbance, Gait ataxia ORPHA:225147
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypersomnia ORPHA:226313
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ... OMIM:200980
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Frontal bossing, Abnormal shape of the occiput, Brachyturricephaly OMIM:218350
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Gitelman Syndrome
Prolonged QT interval, Hypotension, Ataxia, Ventricular tachycardia, Palpitations OMIM:263800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Craniosynostosis, Turricephaly, Umbilical hernia ORPHA:171839
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C... OMIM:619259
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow... ORPHA:549
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Impaired distal proprioception, Positive Romberg sign, Ga... ORPHA:70595
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Distal sensory impairment OMIM:606070
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Muenke Syndrome
Coronal craniosynostosis, Cloverleaf skull, Brachycephaly, Plagiocephaly OMIM:602849
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:600325
Band Heterotopia
Plagiocephaly OMIM:600348
Clark-Baraitser Syndrome
Brachycephaly, Dolichocephaly OMIM:617752
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept... OMIM:616897
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Umb... OMIM:304120
Seckel Syndrome 10
Congestive heart failure, Retinal detachment, Hypertension, Acute pancreatitis, Impaired glucose ... OMIM:617253
Tay-Sachs Disease
Optic atrophy, Abnormal thalamic MRI signal intensity, Inability to walk, Cerebellar atrophy, Gai... ORPHA:845
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Pierpont Syndrome
Brachycephaly ORPHA:487825
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl... OMIM:602782
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Trigonocephaly, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification OMIM:618265
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Nasal polyposis OMIM:606763
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Spina bifida occulta ORPHA:1514
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Ataxia OMIM:619046
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia, Gait disturbance OMIM:214500
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:608647
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Decreased distal sensory nerve action potential, Difficulty walking, Inability to w... ORPHA:466768
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Dpagt1-Cdg
Optic atrophy, Hepatomegaly, Prolonged QT interval, Anemia, Akinesia, Inability to walk, Diffuse ... ORPHA:86309
Roberts Syndrome
Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Se... ORPHA:3103
Craniofrontonasal Dysplasia
Brachycephaly, Craniosynostosis, Frontal bossing, Plagiocephaly ORPHA:1520
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Inability to walk, Cerebellar atrophy, Gait disturbance, Ata... ORPHA:167
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Mesomelic short stature, Metacarpal sy... OMIM:600383
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
Pierpont Syndrome
Brachycephaly OMIM:602342
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Severe postnatal growth ret... ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Craniosynostosis, Turricephaly ORPHA:2145
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Calvarial osteosclerosis, Decreased skull ossification, Thin long b... ORPHA:93325
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus OMIM:244400
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept... OMIM:312870
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Crouzon Syndrome
Brachycephaly, Frontal bossing, Turricephaly, Multiple suture craniosynostosis ORPHA:207
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Dextrocardia
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen, T-wave inversio... ORPHA:1666
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly ORPHA:1143
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Abnormality of the diencephalon, Ataxia, Aplasia/Hypoplasia of the cerebellum ORPHA:2720
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity,... ORPHA:699
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Turricephaly ORPHA:93262
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology... OMIM:615873
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ... OMIM:143095
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Lessel-Kreienkamp Syndrome
Frontal bossing, Plagiocephaly, Scaphocephaly OMIM:619149
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ... ORPHA:268
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
8Q12 Microduplication Syndrome
Brachycephaly ORPHA:228399
Pentasomy X
Plagiocephaly ORPHA:11
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Frontal bossing OMIM:617364
Chromosome 3Pter-P25 Deletion Syndrome
Trigonocephaly, Flat occiput, Dolichocephaly, Brachycephaly OMIM:613792
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Thyroid Hemiagenesis
Hypersomnia ORPHA:95719
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, EEG with focal slow activity, EEG with focal spikes, Inte... ORPHA:83597
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect ORPHA:228390
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Leigh Syndrome
Optic atrophy, Abnormal thalamic MRI signal intensity, Hypsarrhythmia, Chorea, Abnormal dentate n... ORPHA:506
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Pontocerebellar Hypoplasia, Type 3
Brachycephaly OMIM:608027
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:616801
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Howell-Jolly bodies, Hypertrophic cardiomyopat... ORPHA:85443
Pseudodiastrophic Dysplasia
Brachycephaly, Frontal bossing OMIM:264180
Grant Syndrome
Brachycephaly, Frontal bossing ORPHA:2097
Mogs-Cdg
Optic atrophy, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, ... ORPHA:79330
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Increas... ORPHA:2298
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Frontal bossing, Dolichocephaly, Plagiocephaly OMIM:619721
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans... ORPHA:781
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:616789
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly OMIM:620688
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... OMIM:309350
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Difficulty walking, Chorea, Abno... ORPHA:157846
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Mirage Syndrome
Anemia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Intracranial hemorrhage, Lymphopenia, H... OMIM:617053
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno... OMIM:300842
Laurence-Moon Syndrome
Brachycephaly ORPHA:2377
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... OMIM:608013
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Frontal bossing OMIM:615828
Cornelia De Lange Syndrome 2
Brachycephaly OMIM:300590
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Lesch-Nyhan Syndrome
Short stature, Choreoathetosis, Testicular atrophy OMIM:300322
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Vici Syndrome
Abnormal posturing, Postnatal growth retardation, Cerebellar vermis hypoplasia, Failure to thrive... OMIM:242840
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Oculoskeletodental Syndrome
Short stature, Abnormal thalamus morphology ORPHA:557003
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Brachycephaly ORPHA:2511
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... ORPHA:1827
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Craniosynostosis, Turricephaly, Skull asymmetry OMIM:601853
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Inguinal hernia, Broad distal phalang... OMIM:218330
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly OMIM:618862
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Brachycephaly ORPHA:53271
Norrie Disease
Delayed puberty, Optic atrophy, Erectile dysfunction, Uterine rupture, Cachexia, Cryptorchidism, ... ORPHA:649
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Small for gestat... OMIM:227650
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo... ORPHA:1457
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Postnatal growth retardation, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Postnatal growth retardation, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99228
Monosomy X
Delayed puberty, Postnatal growth retardation, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99226
Turner Syndrome
Delayed puberty, Postnatal growth retardation, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:881
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, He... ORPHA:1655
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Cerebellar h... OMIM:193300
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phalanx of hallux... OMIM:236680
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Coffin-Siris Syndrome 6
Frontal bossing, Plagiocephaly OMIM:617808
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Short stature, Failure to th... OMIM:619297
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry ORPHA:137634
Cooper-Jabs Syndrome
Brachycephaly, Frontal bossing, Umbilical hernia ORPHA:1488
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Hepatobla... ORPHA:373
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly ORPHA:70472
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly OMIM:618821
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Gait disturbance ORPHA:88619
6Q25 Microdeletion Syndrome
Plagiocephaly ORPHA:251056
Cornelia De Lange Syndrome 5
Brachycephaly OMIM:300882
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Short stature, Metaphyseal widening... OMIM:259770
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Prune1-Related Neurological Syndrome
Plagiocephaly ORPHA:544469
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:369891
Houge-Janssens Syndrome 3
Frontal bossing, Plagiocephaly, Umbilical hernia OMIM:618354
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Optic neur... ORPHA:320375
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:308552
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly ORPHA:1387
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing OMIM:613174
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Opitz Gbbb Syndrome
Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Dandy-Walker malformation, Thyroglossal... ORPHA:2745
Xq28 (MECP2) duplication
Brachycephaly DECIPHER:45
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Frontal bossing OMIM:615539
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypothalamic hamartoma... OMIM:146510
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ... ORPHA:892
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:618430
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Proteus Syndrome
Enlarged kidney, Long penis, Retinal nonattachment, Neoplasm of the thymus, Renal cyst, Enlarged ... ORPHA:744
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Difficulty walking, Right axis deviation, Sinus tac... OMIM:232300
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
German Syndrome
Brachycephaly, Dolichocephaly ORPHA:2077
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Growth delay, Camptodactyl... ORPHA:2753
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia OMIM:617751
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk... OMIM:620376
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Mucopolysaccharidosis Type 3
Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysac... ORPHA:581
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Spina bifida ORPHA:1327
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anterior plagiocephaly, Frontal bossing, Brachycephaly ORPHA:163649
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Malan Overgrowth Syndrome
Frontal bossing, Plagiocephaly, Scaphocephaly ORPHA:420179
2Q32Q33 Microdeletion Syndrome
Brachycephaly ORPHA:251019
Genetic Transient Congenital Hypothyroidism
Hypersomnia ORPHA:226316
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ... OMIM:612541
Recombinant Chromosome 8 Syndrome
Brachycephaly OMIM:179613
Hydranencephaly
Postnatal growth retardation, Optic nerve hypoplasia, Dysgenesis of the thalamus, Intrauterine gr... ORPHA:2177
Even-Plus Syndrome
Brachycephaly OMIM:616854
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia ORPHA:500159
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Cdags Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ... OMIM:603116
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly OMIM:300958
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Sagittal c... OMIM:123500
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly OMIM:618089
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Cystocele, Men... ORPHA:285
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:219150
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Hypospadias, Abnormality of the Leydig cells, Short stature, Unsteady gait, EE... ORPHA:3063
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi... ORPHA:363705
Microphthalmia/Coloboma 12
Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system, Vesicoureteral... OMIM:120200
Lowe Oculocerebrorenal Syndrome
Rickets, Postnatal growth retardation, Genu valgum, Pathologic fracture, Osteomalacia, Finger swe... OMIM:309000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Spina bifida occulta, Frontal bossing, Facial hyperostosis, Flat occiput, Thickene... ORPHA:2780
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Chopra-Amiel-Gordon Syndrome
Brachycephaly OMIM:619504
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid... OMIM:230000
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Plagiocephaly ORPHA:2163
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Intraut... ORPHA:672
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Chorea, Athetosis, Decreased body weight, Pain insen... OMIM:615273
Hypoplasminogenemia
Cervicitis, Dandy-Walker malformation, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Wilson Disease
Decreased nerve conduction velocity, Hypoparathyroidism, Hypoesthesia OMIM:277900
Humeroradial Synostosis
Brachycephaly OMIM:236400
Fetal Trimethadione Syndrome
Brachycephaly ORPHA:1913
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Failure to thrive ORPHA:444013
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... ORPHA:70591
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly, Brachycephaly ORPHA:459061
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal social behavior ORPHA:530983
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Frontal bossing, Biparietal narrowing, Umbilical hernia ORPHA:1292
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly OMIM:618142
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Frontal bossing OMIM:608688
Lipoid Proteinosis
Nasal polyposis ORPHA:530
Lujan-Fryns Syndrome
Brachycephaly ORPHA:776
Antley-Bixler Syndrome
Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing ORPHA:83
Poliomyelitis
Abnormal motor nerve conduction velocity, Inability to walk, Paresthesia ORPHA:2912
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Choreoathetosis ORPHA:79443
2Q23.1 Microdeletion Syndrome
Brachycephaly ORPHA:228402
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Short stature, Growth delay, Papilledema ORPHA:580
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o... ORPHA:201
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Blepharophimosis-Impaired Intellectual Development Syndrome
Frontal bossing, Plagiocephaly OMIM:619293
Larsen-Like Syndrome
Brachycephaly, Frontal bossing OMIM:608545
Kury-Isidor Syndrome
Brachycephaly, Frontal bossing OMIM:619762
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly ORPHA:3306
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:261652
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul... ORPHA:14
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cranial asymmetry, Scaphocephaly OMIM:614886
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Hurler Syndrome
Short stature, Abnormal nerve conduction velocity, Growth delay ORPHA:93473
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput OMIM:220210
Frontonasal Dysplasia 2
Brachycephaly, Encephalocele, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calvar... OMIM:613451
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Spina bifida occulta OMIM:268850
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Frontal bossing OMIM:608776
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:617296
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Short stature ORPHA:585
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Brachycephaly OMIM:617452
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria OMIM:239200
Chromosome 2Q37 Deletion Syndrome
Brachycephaly OMIM:600430
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:612582
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Ataxia, Diabetic ketoacidosis, ... OMIM:601992
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
Houge-Janssens Syndrome 2
Plagiocephaly OMIM:616362
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Frontal bossing, Plagiocephaly ORPHA:371364
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Dolichocephaly ORPHA:2633
X-Linked Intellectual Disability, Wilson Type
Brachycephaly ORPHA:85290
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention... ORPHA:97297
Williams-Beuren Region Duplication Syndrome
Brachycephaly OMIM:609757
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Brachycephaly ORPHA:505237
Carpenter Syndrome 1
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Coronal craniosynostosis, Umbil... OMIM:201000
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:2095
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom... OMIM:617913
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Frontal bossing, Thickened calvaria ORPHA:439822
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Severe postnatal growth retardati... ORPHA:125
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left and right thalami, Dilat... OMIM:619306
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flat occiput, Plagiocephaly OMIM:619383
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Peutz-Jeghers Syndrome
Abnormality of the nose, Neoplasm of the nose, Nasal polyposis ORPHA:2869
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly OMIM:263210
Monosomy 18P
Brachycephaly ORPHA:1598
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly OMIM:619435
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,... ORPHA:565612
Trisomy 20P
Brachycephaly, Plagiocephaly, Spina bifida, Frontal bossing, Dolichocephaly, Umbilical hernia ORPHA:261318
Bresek Syndrome
Plagiocephaly ORPHA:85284
Contractural Arachnodactyly, Congenital
Brachycephaly, Frontal bossing, Dolichocephaly, Scaphocephaly OMIM:121050
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Renal cyst, Cardiomegaly, Ventricular septal defect ORPHA:137675
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Frontal bossing, Plagiocephaly OMIM:619720
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly OMIM:109120
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529808
Orofaciodigital Syndrome I
Cerebellar cyst, Hypothalamic hamartoma, Short stature, Ovarian cyst, Pancreatic cysts OMIM:311200
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic... OMIM:620371
Frontofacionasal Dysplasia
Brachycephaly, Encephalocele ORPHA:1791
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anterior plagiocephaly, Left unicoronal synostosis, Plagiocephaly OMIM:614749
Smith-Magenis Syndrome
Brachycephaly, Frontal bossing ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card... OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Difficulty walking, Distal sensory impairment, Impaired temperature ... ORPHA:642
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Floating-Harbor Syndrome
Hypospadias, Broad-based gait, Precocious puberty, Varicocele, Short stature, Growth delay, Epidi... ORPHA:2044
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly OMIM:301041
Menkes Disease
Brachycephaly OMIM:309400
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly OMIM:619833
ERI1-related disease
Trigonocephaly, Frontal bossing, Brachycephaly OMIM:608739
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Brachycephaly OMIM:618797
19P13.12 Microdeletion Syndrome
Brachycephaly, Craniosynostosis ORPHA:254346
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Craniosynostosis, Brachycephaly ORPHA:1790
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Coronal craniosynostosis, Frontal bossing, Lambdoidal craniosynostosis, Brachycephaly OMIM:207410
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida, Umbilical hernia OMIM:613776
Microphthalmia, Syndromic 9
Pulmonic stenosis, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Spina bifida occulta, Prominent occiput OMIM:617360
Hallermann-Streiff Syndrome
Brachycephaly, Spina bifida, Parietal bossing, Frontal bossing, Dolichocephaly, Thin calvarium, P... OMIM:234100
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Stevenson-Carey Syndrome
Brachycephaly OMIM:611961
Ulbright-Hodes Syndrome
Postnatal growth retardation, Hypoplasia of the radius, Fibular aplasia, Short ribs, Severe intra... ORPHA:3404
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Brachycephaly OMIM:300260
Fg Syndrome Type 1
Umbilical hernia, Craniosynostosis, Plagiocephaly, Prominent occiput ORPHA:93932
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Al Kaissi Syndrome
Brachycephaly OMIM:617694
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Postnatal growth retardation, Ataxia, Decreased thalamic volume ORPHA:168577
Williams Syndrome
Gait imbalance, Cholelithiasis, Hypoplasia of penis, Gait disturbance, Hypothyroidism, Precocious... ORPHA:904
Acrofrontofacionasal Dysostosis 2
Brachycephaly OMIM:239710
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly OMIM:620073
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly OMIM:619188
Atelis Syndrome 2
Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosi... OMIM:620185
Cockayne Syndrome Type 3
Difficulty walking, Cerebellar dentate nucleus calcification, Unsteady gait, Mild postnatal growt... ORPHA:90324
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep... OMIM:269700
Noonan Syndrome 13
Plagiocephaly OMIM:619087
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Brachycephaly ORPHA:93258
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Brachycephaly ORPHA:2707
Distal Deletion 10Q
Brachycephaly, Frontal bossing, Spina bifida occulta, Craniosynostosis ORPHA:96148
Lig4 Syndrome
Brachycephaly, Biparietal narrowing ORPHA:99812
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Hypothalamic hamartoma OMIM:619775
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Abnormal parietal bone morphology, Plagiocephaly ORPHA:247262
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly ORPHA:364028
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Lambdoidal craniosynostosis OMIM:615398
Momo Syndrome
Brachycephaly, Frontal bossing OMIM:157980
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Acrofrontofacionasal Dysostosis
Brachycephaly ORPHA:1784
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Achondrogenesis, Type Ii
Brachycephaly, Frontal bossing OMIM:200610
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Dolichocephaly, Plagiocephaly ORPHA:457279
Intellectual Disability-Strabismus Syndrome
Plagiocephaly ORPHA:363528
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Cardiac conduction abnormality, Ataxia, Arrhythmia, Choreoathetosis, Abnormal T-wave ORPHA:2131
Angelman Syndrome
Flat occiput, Brachycephaly OMIM:105830
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Linear Nevus Sebaceus Syndrome
Frontal bossing, Plagiocephaly, Biparietal narrowing, Prominent occiput ORPHA:2612
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Brachycephaly ORPHA:562528
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly OMIM:619995
Anauxetic Dysplasia 3
Plagiocephaly OMIM:618853
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly ORPHA:457193
Trisomy 9P
Brachycephaly ORPHA:236
Charge Syndrome
Hypoplasia of the ulna, Postnatal growth retardation, Delayed puberty, Absent tibia, Hand monodac... OMIM:214800
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing ORPHA:85199
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
9P13 Microdeletion Syndrome
Brachycephaly, Umbilical hernia ORPHA:324313
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly ORPHA:2063
Noonan Syndrome
Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Hypertrophic... ORPHA:648
Chromosome 13Q33-Q34 Deletion Syndrome
Trigonocephaly, Brachycephaly, Anencephaly, Encephalocele OMIM:619148
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Dihydropyrimidinase Deficiency
Plagiocephaly OMIM:222748
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... ORPHA:51
Marshall Syndrome
Brachycephaly, Frontal bossing, Thickened calvaria ORPHA:560
Acrodysostosis
Brachycephaly, Frontal bossing ORPHA:950
Thyroid Ectopia
Hypersomnia ORPHA:95712
Craniosynostosis And Dental Anomalies
Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Trigonocephaly, Frontal bossing, Corona... OMIM:614188
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly OMIM:618885
Apert Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Acrobrachycephaly, Brachyturricephaly, Coronal cranio... OMIM:101200
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Alagille Syndrome
Brachycephaly, Frontal bossing, Spina bifida occulta ORPHA:52
Adenylosuccinase Deficiency
Brachycephaly OMIM:103050
Cree Mental Retardation Syndrome
Brachycephaly OMIM:606851
Warburg Micro Syndrome 3
Brachycephaly OMIM:614222
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:602433
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Chromosome 2P16.1-P15 Deletion Syndrome
Brachycephaly OMIM:612513
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Skull asymmetry OMIM:614701
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Dolichocephaly ORPHA:2215
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Nephrotic syndro... OMIM:609049
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 1
Brachycephaly, Frontal bossing OMIM:156200
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Nasal polyposis ORPHA:183
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:365
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Frontal bossing, Plagiocephaly OMIM:617193
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
20Q11.2 Microduplication Syndrome
Trigonocephaly, Brachycephaly ORPHA:363659
Momo Syndrome
Brachycephaly, Frontal bossing ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Spina bifida occulta OMIM:619227
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Brachycephaly ORPHA:96147
Noonan Syndrome 1
Postnatal growth retardation, Male infertility, Hypospadias, Short stature, Hypogonadism, Failure... OMIM:163950
Alkuraya-Kucinskas Syndrome
Plagiocephaly OMIM:617822
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly ORPHA:500055
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
19P13.13 Microdeletion Syndrome
Brachycephaly, Dolichocephaly ORPHA:357001
Woodhouse-Sakati Syndrome
Choreoathetosis, Diabetes mellitus, Abnormal T-wave OMIM:241080
Hoxha-Aliu Syndrome
Brachycephaly OMIM:620662
Cystic Fibrosis
Absent vas deferens, Male infertility, Decreased body mass index, Failure to thrive ORPHA:586
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly OMIM:617798
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Short stature, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
48,Xxxy Syndrome
Brachycephaly ORPHA:96263
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Plagiocephaly OMIM:613603
Lig4 Syndrome
Brachycephaly OMIM:606593
Phosphoribosylaminoimidazole Carboxylase Deficiency
Brachycephaly OMIM:619859
Apert Syndrome
Cloverleaf skull, Frontal bossing, Brachyturricephaly, Acrobrachycephaly ORPHA:87
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
49,Xxxxy Syndrome
Brachycephaly ORPHA:96264
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Male hypogonadism, Primary hypothyroidism, Short stature, Fail... OMIM:219800
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Frontal bossing OMIM:257850
Saethre-Chotzen Syndrome
Brachycephaly, Craniosynostosis, Plagiocephaly ORPHA:794
Cleidocranial Dysplasia
Brachycephaly, Frontal bossing, Spina bifida occulta ORPHA:1452
Baller-Gerold Syndrome
Brachycephaly, Frontal bossing, Brachyturricephaly ORPHA:1225
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly OMIM:614800
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:610759
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Cerebrooculonasal Syndrome
Brachycephaly, Proboscis, Encephalocele, Frontal bossing, Craniosynostosis OMIM:605627
White-Sutton Syndrome
Brachycephaly OMIM:616364
Kleefstra Syndrome 1
Brachycephaly OMIM:610253
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Dolichocephaly, Umbilical hernia ORPHA:1101
Martsolf Syndrome 1
Brachycephaly OMIM:212720
7Q31 Microdeletion Syndrome
Plagiocephaly ORPHA:251061
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly OMIM:239300
Sweeney-Cox Syndrome
Flat occiput, Brachycephaly OMIM:617746
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Retinal hemorrhage, Hyperphosphatur... ORPHA:51608
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly OMIM:615471
Craniofrontonasal Syndrome
Coronal craniosynostosis, Frontal bossing, Brachycephaly, Umbilical hernia OMIM:304110
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Exencephaly, Brachycephaly, Encephalocele ORPHA:2211
Faciocardiorenal Syndrome
Plagiocephaly ORPHA:1973
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocy... OMIM:256040
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly ORPHA:371428
Dysostosis, Stanescu Type
Brachycephaly ORPHA:1798
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Short statu... ORPHA:444077
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
2P15P16.1 Microdeletion Syndrome
Brachycephaly ORPHA:261349
Microphthalmia, Syndromic 2
Hypospadias, Dextrocardia, Retinal detachment, Remnants of the hyaloid vascular system, Aortic va... OMIM:300166
Somatomammotropinoma
Hypersomnia, Sleep apnea ORPHA:314769
Acromegaly
Hypersomnia, Sleep apnea ORPHA:963
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Granulomatosis With Polyangiitis
Nasal mucosa vasculitis, Concave nasal ridge OMIM:608710
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Raine Syndrome
Brachycephaly, Plagiocephaly, Brachyturricephaly OMIM:259775
Warburg Micro Syndrome 2
Brachycephaly OMIM:614225
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly OMIM:261990
Alpha-Mannosidosis, Infantile Form
Brachycephaly, Cranial hyperostosis, Umbilical hernia, Craniosynostosis, Thickened calvaria ORPHA:309282
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly OMIM:619229
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Dolichocephaly, Plagiocephaly OMIM:619005
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly OMIM:212066
Metaphyseal Chondrodysplasia, Jansen Type
Brachycephaly OMIM:156400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Craniosynostosis, Plagiocephaly ORPHA:453499
Kleefstra Syndrome
Brachycephaly ORPHA:261494
Au-Kline Syndrome
Plagiocephaly, Lipomyelomeningocele, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis OMIM:616580
Opitz-Kaveggia Syndrome
Frontal bossing, Plagiocephaly, Umbilical hernia OMIM:305450
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly OMIM:615656
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Distal Deletion 3P
Brachycephaly, Umbilical hernia ORPHA:1620
Joubert Syndrome 1
Occipital myelomeningocele, Plagiocephaly OMIM:213300
Gapo Syndrome
Frontal bossing, Plagiocephaly, Umbilical hernia OMIM:230740
Adnp Syndrome
Trigonocephaly, Plagiocephaly, Brachycephaly, Umbilical hernia ORPHA:404448
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly ORPHA:495818
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly ORPHA:496641
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Reduced social reciprocity, Lateral ventricle dilatation ORPHA:177907
Neuroocular Syndrome
Sleep onset insomnia, Hypersomnia, Obstructive sleep apnea OMIM:619539
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Brachycephaly, Thickened calvaria OMIM:309583
De Barsy Syndrome
Brachycephaly, Umbilical hernia ORPHA:2962
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Holoprosencephaly 7
Cranial asymmetry, Frontal bossing, Parietal bossing, Occipital meningocele, Flat occiput OMIM:610828
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Calvarial hyperostosis OMIM:101800
Cerebrofaciothoracic Dysplasia
Brachycephaly ORPHA:1394
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly OMIM:300749
Fibrochondrogenesis
Plagiocephaly ORPHA:2021
Hamamy Syndrome
Brachycephaly, Craniosynostosis OMIM:611174
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly OMIM:618268
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Frontal bossing ORPHA:1236
White-Sutton Syndrome
Brachycephaly ORPHA:468678
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly ORPHA:2673
Loeys-Dietz Syndrome 5
Brachycephaly, Dolichocephaly OMIM:615582
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Brachycephaly OMIM:300968
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Frontal bossing OMIM:259600
Weill-Marchesani Syndrome 1
Brachycephaly, Broad skull OMIM:277600
Cartilage-Hair Hypoplasia
Brachycephaly OMIM:250250
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:619512
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Craniosynostosis, Frontal bossing, Plagiocephaly ORPHA:536467
7Q11.23 Microduplication Syndrome
Brachycephaly, Craniosynostosis, Dolichocephaly ORPHA:96121
Down Syndrome
Brachycephaly, Umbilical hernia ORPHA:870
Peutz-Jeghers Syndrome
Nasal polyposis OMIM:175200
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Frontal bossing OMIM:616078
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynos... OMIM:101400
Aymé-Gripp Syndrome
Brachycephaly, Craniosynostosis, Plagiocephaly ORPHA:1272
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Brachycephaly, Frontal bossing OMIM:616728
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly OMIM:613457
Weill-Marchesani Syndrome 2
Brachycephaly, Broad skull, Umbilical hernia OMIM:608328
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Frontal bossing, Plagiocephaly, Umbilical hernia OMIM:280000
Noonan Syndrome With Multiple Lentigines
Brachycephaly, Spina bifida occulta ORPHA:500
Yunis-Varon Syndrome
Hypospadias, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Tetralogy of Fallo... ORPHA:3472
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Brachycephaly, Craniosynostosis ORPHA:369837
Mosaic Variegated Aneuploidy Syndrome 1
Brachycephaly OMIM:257300
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly OMIM:254940
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Cleidocranial Dysplasia 2
Plagiocephaly OMIM:620099
Cartilage-Hair Hypoplasia
Brachycephaly, Spinal dysraphism ORPHA:175
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Brachycephaly, Plagiocephaly OMIM:301072
Atelosteogenesis Type Ii
Plagiocephaly ORPHA:56304
Baller-Gerold Syndrome
Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synosto... OMIM:218600
Gorlin Syndrome
Brachycephaly, Frontal bossing ORPHA:377
Choreoacanthocytosis
Falls, Chorea, Abnormal autonomic nervous system physiology, Head titubation, Decreased amplitude... ORPHA:2388
Kaufman Oculocerebrofacial Syndrome
Brachycephaly OMIM:244450
Cranioectodermal Dysplasia 2
Plagiocephaly, Cloverleaf skull, Frontal bossing, Dolichocephaly, Craniosynostosis OMIM:613610
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly ORPHA:521445
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly OMIM:601353
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Craniosynostosis OMIM:213980
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly OMIM:608980
Treacher-Collins Syndrome
Brachycephaly, Frontal bossing, Branchial fistula, Encephalocele ORPHA:861
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly OMIM:618548
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Anterior plagiocephaly OMIM:619718
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Duane Retraction Syndrome
Plagiocephaly, Spina bifida occulta ORPHA:233
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly OMIM:601701
Branchioskeletogenital Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria, Umbilical hernia ORPHA:1299
Alg12-Cdg
Posterior plagiocephaly ORPHA:79324
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Ove... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Abnormal social behavior, Inappropriate laughter, Agenesis of corpus callosum, Ove... ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Dolichocephaly, Plagiocephaly, Spina bifida OMIM:619480
Hallermann-Streiff Syndrome
Brachycephaly, Frontal bossing ORPHA:2108
Cornelia De Lange Syndrome 1
Brachycephaly OMIM:122470
Monosomy 9P
Trigonocephaly, Calvarial skull defect, Brachycephaly ORPHA:261112
Frank-Ter Haar Syndrome
Flat occiput, Brachycephaly OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Brachycephaly, Posterior plagiocephaly, Frontal bossing, Dolichocephaly, Umbilical hernia, Scapho... OMIM:620330
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly ORPHA:45358
Autosomal Recessive Faciodigitogenital Syndrome
Brachycephaly, Frontal bossing ORPHA:1974
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Frontofacionasal Dysplasia
Brachycephaly, Cranium bifidum occultum, Hypoplasia of the frontal bone OMIM:229400
Hunter-Macdonald Syndrome
Brachycephaly, Umbilical hernia OMIM:611962
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly OMIM:620083
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly OMIM:618223
Carpenter Syndrome 2
Brachycephaly, Trigonocephaly, Frontal bossing, Umbilical hernia, Craniosynostosis, Oxycephaly OMIM:614976
Acrofrontofacionasal Dysostosis 1
Brachycephaly OMIM:201180
Osteopetrosis With Renal Tubular Acidosis
Brachycephaly, Plagiocephaly, Thickened calvaria ORPHA:2785
Fontaine Progeroid Syndrome
Brachycephaly, Turricephaly, Coronal craniosynostosis, Umbilical hernia, Craniosynostosis OMIM:612289
Arboleda-Tham Syndrome
Frontal bossing, Plagiocephaly, Craniosynostosis OMIM:616268
Distal Deletion 12Q
Brachycephaly, Frontal bossing ORPHA:96149
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Brachycephaly OMIM:616263
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Plagiocephaly ORPHA:2538
Kbg Syndrome
Brachycephaly OMIM:148050
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Trigonocephaly, Craniosynostosis, Brachycephaly OMIM:309590
Turnpenny-Fry Syndrome
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:618371
Doors Syndrome
Brachycephaly, Sirenomelia, Spina bifida occulta, Prominent occiput, Anterior plagiocephaly, Fron... ORPHA:79500
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Brachycephaly OMIM:619950
Chilton-Okur-Chung Neurodevelopmental Syndrome
Frontal bossing, Posterior plagiocephaly, Dolichocephaly, Plagiocephaly OMIM:619841
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Plagiocephaly, Dolichocephaly OMIM:619475
Ayme-Gripp Syndrome
Craniofacial asymmetry, Brachycephaly OMIM:601088
Congenital Myopathy 13
Brachycephaly OMIM:255995
Cystic Fibrosis
Nasal polyposis OMIM:219700
Aicardi Syndrome
Plagiocephaly ORPHA:50
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Umbilical hernia OMIM:601776
6Q Terminal Deletion Syndrome
Plagiocephaly, Dolichocephaly ORPHA:75857
14Q22Q23 Microdeletion Syndrome
Brachycephaly ORPHA:264200
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly OMIM:227330
Mend Syndrome
Abnormal auditory evoked potentials, Abnormal social behavior ORPHA:401973
Osteogenesis Imperfecta
Brachycephaly, Umbilical hernia, Prominent occiput ORPHA:666
Chime Syndrome
Brachycephaly ORPHA:3474
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachycephaly, Frontal bossing, Turricephaly, Prominent occiput OMIM:612474
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly ORPHA:457284
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Coffin-Siris Syndrome 1
Brachycephaly, Plagiocephaly, Spina bifida occulta, Frontal bossing, Umbilical hernia OMIM:135900
Degcags Syndrome
Craniosynostosis, Plagiocephaly OMIM:619488
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Umbilical hernia ORPHA:1519
Mandibuloacral Dysplasia Progeroid Syndrome
Brachycephaly, Frontal bossing OMIM:619127
Ring Chromosome 7 Syndrome
Brachycephaly, Plagiocephaly ORPHA:1449
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Frontal bossing, Thickened calvaria, Plagiocephaly ORPHA:466791
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Thickened calvaria, Cranial asymmetry ORPHA:3455
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachycephaly, Frontal bossing OMIM:617157
1P36 Deletion Syndrome
Brachycephaly, Frontal bossing ORPHA:1606
Faundes-Banka Syndrome
Frontal bossing, Plagiocephaly OMIM:619376
Wiedemann-Rautenstrauch Syndrome
Brachycephaly, Parietal bossing, Frontal bossing OMIM:264090
Sarcoidosis
Eosinophilia, Facial palsy, Abnormal nasal mucosa morphology ORPHA:797
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Sagittal craniosynostosis OMIM:620455
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Peters Plus Syndrome
Brachycephaly, Frontal bossing, Spina bifida occulta, Umbilical hernia ORPHA:709
Down Syndrome
Brachycephaly OMIM:190685
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Brachycephaly, Frontal bossing, Dolichocephaly OMIM:619503
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Single ventricle OMIM:157170
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Brachycephaly OMIM:265380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Brachycephaly ORPHA:2072
Renpenning Syndrome 1
Brachycephaly OMIM:309500
Elsahy-Waters Syndrome
Brachycephaly OMIM:211380
X-Linked Intellectual Disability, Armfield Type
Brachycephaly ORPHA:85276
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly OMIM:610442
Chromosome 1P36 Deletion Syndrome, Distal
Brachycephaly, Frontal bossing OMIM:607872
Viss Syndrome
Brachycephaly, Frontal bossing, Dolichocephaly, Umbilical hernia OMIM:619472
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Brachycephaly, Craniosynostosis, Cloverleaf skull, Frontal bossing OMIM:201750
Cornelia De Lange Syndrome
Brachycephaly ORPHA:199
Trichorhinophalangeal Syndrome, Type Ii
Plagiocephaly, Skull asymmetry OMIM:150230
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Microphthalmia, Syndromic 6
Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis OMIM:607932
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly ORPHA:3042
Aspartylglucosaminuria
Brachycephaly, Thickened calvaria OMIM:208400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Brachycephaly ORPHA:480880
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Plagiocephaly OMIM:613355
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Craniosynostosis, Frontal encephalocele OMIM:268300
Primrose Syndrome
Brachycephaly OMIM:259050
Mowat-Wilson Syndrome
Anterior plagiocephaly ORPHA:2152

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Uterus - MPATH pathological process term inflammation Ebf2em1(IMPC)Mbp HET Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ebf2.

No publications found that use IMPC mice or data for Ebf2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ebf2tm88484(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ebf2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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