Gene Summary

Name:
calbindin 1
Synonyms:
calbindin-D (28k),  CB,  Calb,  Brain-2,  CalbindinD28K,  Calb-1,  calbindin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
kyphosis Calb1em1(IMPC)Ccpcz HOM Early adult 1.92×10-06
abnormal heart morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retina morphology Calb1em1(IMPC)Ccpcz HOM Early adult 1.75×10-05
abnormal spleen morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Calb1em1(IMPC)Ccpcz HOM Early adult 2.45×10-05
small spleen Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Calb1em1(IMPC)Ccpcz HOM Early adult 6.27×10-11
abnormal testis morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart left ventricle morphology Calb1em1(IMPC)Ccpcz HOM Early adult 5.45×10-06
hydrometra Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
increased cardiac muscle contractility Calb1em1(IMPC)Ccpcz HOM Early adult 1.49×10-06
enlarged heart Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Calb1em1(IMPC)Ccpcz HOM Early adult 5.01×10-12
small testis Calb1em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

Human diseases caused by Calb1 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 Calb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Megalencephaly With Dysmyelination
Spasticity, EEG with photoparoxysmal response, Ataxia OMIM:249240
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Spasticity, EEG abnormality, Ataxia OMIM:619228
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Babinski sign, Dysdiadochokin... ORPHA:101007
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure, Kyphoscoliosis OMIM:300886
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure, Splenomegaly, Hepatomegaly, Kyphosis ORPHA:796
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Ataxia, Interictal e... OMIM:254800
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Positive Romberg sign, Gait ata... OMIM:608984
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, Rod-co... OMIM:602271
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, ... OMIM:256731
Ethanolaminosis
Cardiomegaly OMIM:227150
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abn... ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Episodic Ataxia, Type 5
Episodic ataxia, EEG with spike-wave complexes, Myoclonus, Ataxia, Truncal ataxia, EEG with gener... OMIM:613855
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypog... OMIM:235200
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... ORPHA:1354
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Kyphosis ORPHA:1875
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vert... OMIM:301900
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Anterior beaking of lum... OMIM:230650
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-Wh... OMIM:618234
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Hepatomeg... OMIM:613313
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:1802
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cry... ORPHA:3085
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Hypospadias, Kyphosis, Abnormal testis morphology ORPHA:1548
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Null Syndrome
Progressive spastic paraplegia, Difficulty walking, Decreased nerve conduction velocity, Inabilit... ORPHA:280234
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Cryptorchidism OMIM:618512
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis OMIM:617087
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Congenital Myopathy 8
Cardiomegaly, Scoliosis, Congestive heart failure OMIM:618654
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... OMIM:252920
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... ORPHA:3109
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Cryptorchidism OMIM:618393
Congenital Toxoplasmosis
Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytop... ORPHA:858
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Kyphosis OMIM:618453
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... OMIM:230800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Sialidosis Type 2
Abnormal macular morphology, Ascites, Splenomegaly, Hepatomegaly, Kyphosis ORPHA:87876
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... OMIM:619123
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Roifman Syndrome
Biconvex vertebral bodies, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy,... OMIM:616651
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Optic atrophy, Kyphosis OMIM:618237
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis ORPHA:85288
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Short neck, Scoliosis, Cryptorchidism ORPHA:178148
Genitopalatocardiac Syndrome
Hypospadias, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male ... ORPHA:2075
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Kypho... OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Decreased l... ORPHA:465508
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Proteus Syndrome
Lymphangioma, Spinal canal stenosis, Splenomegaly, Kyphoscoliosis OMIM:176920
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis, Retinal dystrophy OMIM:616756
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty, Scoliosis, Kyphosis, Retinal dystrophy OMIM:180870
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Dilated cardiomyopathy, Arrhythmia, Kyphosis, Hypergonadotropic hypogonadism, Ne... OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Scoliosis, Kyphosis ORPHA:352490
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Rod-con... OMIM:252930
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis, Cryptorchidism OMIM:611890
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Thromb... OMIM:611490
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... OMIM:618652
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Arrhythmia, Impotence ORPHA:85447
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Neuraminidase Deficiency
Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:256550
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Abnormal retinal morphology ORPHA:2786
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Cryptorchidism, Hepatic steatosis, Telangiectasia of the skin, Hepatomegaly, S... OMIM:615381
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Abnormal morphology of female internal genitali... ORPHA:2311
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Biliary tract abnormality, Short neck, Arrhythmia, Subvalvular aortic ... ORPHA:3191
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Vertebral ... ORPHA:1926
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Scoliosis, Cryptorchidism, Vertebral segmentation defect ORPHA:2617
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, S... ORPHA:848
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Scoliosis, Cryptorchidism, Kyphoscoliosis OMIM:618484
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, Kyphosis OMIM:615433
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f... OMIM:115197
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Dilated cardiomyopathy, Arrhythmia, Kyphosis, Hypergonadotropic hypogonadism, Ne... ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly,... ORPHA:79330
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Winchester Syndrome
Kyphosis OMIM:277950
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia... OMIM:607616
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombocytopenia ORPHA:721
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ... OMIM:601186
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Abnormal form of the vertebral bodies, Pancreatic cysts, Hepatosp... ORPHA:464329
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypertrophy, Scoliosis OMIM:252900
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval, Kyphosis OMIM:619040
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Cuboid-shaped vertebral bodies, Cardiome... OMIM:239850
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... ORPHA:1797
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Abnormal form of the vertebral bodies, Cardiomyopathy, Congestive h... ORPHA:354
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Micr... ORPHA:324737
Becker Nevus Syndrome
Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum morphology, Spina bifida occulta... ORPHA:64755
Alpha-Mannosidosis
Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis ORPHA:61
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Sialidosis Type 1
Abnormal form of the vertebral bodies, Cherry red spot of the macula, Splenomegaly, Retinopathy, ... ORPHA:812
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Mega... OMIM:222300
Wolman Disease
Adrenal calcification, Hepatomegaly, Splenomegaly OMIM:620151
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica... ORPHA:2522
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Scoliosis, Kyphosis ORPHA:816
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
3C Syndrome
Aortic valve stenosis, Hypospadias, Hypoplastic left heart, Optic atrophy, Chorioretinal coloboma... ORPHA:7
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... ORPHA:2969
Fucosidosis
Anterior beaking of thoracic vertebrae, Cherry red spot of the macula, Cervical platyspondyly, Lu... OMIM:230000
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Aortic regurgitation, Cryptorchidism, Mitral regurgitation, Vent... ORPHA:254346
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ... ORPHA:251066
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... ORPHA:2414
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... OMIM:602557
Trisomy 13
Optic atrophy, Abnormal morphology of female internal genitalia, Cryptorchidism, Displacement of ... ORPHA:3378
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Clark-Baraitser syndrome
Macroorchidism, Scoliosis, Kyphosis OMIM:300602
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hyperlo... ORPHA:3130
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia,... ORPHA:3320
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine, Kyphosis ORPHA:48431
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi... ORPHA:1655
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Hypothyroidism, Anterior beaking of l... ORPHA:349
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Oculoskeletodental Syndrome
Splenomegaly, Cryptorchidism, Hepatomegaly, Hypothyroidism, Lacunar stroke, Scoliosis, Thoracic k... OMIM:618440
Mulibrey Nanism
Pigmentary retinopathy, Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction... OMIM:253250
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, T... ORPHA:210122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Sho... OMIM:616897
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis ORPHA:3137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro... ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Alg1-Cdg
Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy ORPHA:79327
Infantile Liver Failure Syndrome 3
Platyspondyly, Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hypoplast... OMIM:618641
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Micropenis, Hypospadias... OMIM:300354
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen... ORPHA:79083
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Abno... OMIM:309900
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Overriding a... OMIM:617022
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Abnormality of retinal pigmentation, Ventricular septal d... ORPHA:290
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Hepatomegaly,... OMIM:253000
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Congenital Disorder Of Glycosylation, Type Il
Ascites, Splenomegaly, Hepatomegaly, Short neck, Atrial septal defect, Pericardial effusion, Kyph... OMIM:608776
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cowden Syndrome 5
Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:615108
Hurler Syndrome
Aortic regurgitation, Hypoplasia of the odontoid process, Cardiomyopathy, Hepatosplenomegaly, End... OMIM:607014
Stickler Syndrome, Type I
Platyspondyly, Vitreoretinopathy, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, M... OMIM:108300
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Optic atrophy, Sea-blue histiocytosis, Splenomegaly, Hypop... OMIM:230600
15Q24 Microdeletion Syndrome
Hypospadias, Microphallus, Decreased response to growth hormone stimulation test, Abnormal heart ... ORPHA:94065
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism,... OMIM:615109
Intellectual Developmental Disorder, X-Linked 112
Hypospadias, Abnormal heart morphology, Cryptorchidism, Retinopathy, Kyphoscoliosis, Bicuspid aor... OMIM:301111
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Urban-Rogers-Meyer Syndrome
Hypogonadism, Cryptorchidism, Short neck, Hypoplasia of penis, Kyphosis ORPHA:3409
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Hypogonadism, Short neck, Spina bifida occulta, Hypoplasia of penis, Kyphosis ORPHA:2983
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Angioid streaks of the fundus, Ovarian carcinom... OMIM:158350
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Micro Syndrome
Optic atrophy, Retinal coloboma, Hypoplastic labia minora, Cryptorchidism, Abnormality of retinal... ORPHA:2510
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Kyphosis, Aplasia/hypoplasia of the uterus, Abs... ORPHA:2232
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy... ORPHA:398124
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Scoliosis, Kyphosis ORPHA:99014
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased carnitine level ... OMIM:212140
Hurler-Scheie Syndrome
Aortic regurgitation, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Hepato... OMIM:607015
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Cryptorchidism, Scoliosis,... ORPHA:628
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin... OMIM:305400
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Scoliosis, Kyphosis OMIM:610743
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia, Hepatomegaly, Macrovesicular hepat... OMIM:600649
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... OMIM:619151
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Mitral regurgitation, ... ORPHA:261250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Cardiomegaly, Short neck, Pulmonary arterial hypertension, Severe platyspondyl... OMIM:613320
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Leukemia, Supernumerary nipple, Cryptorchidism, Micropenis, Scolio... OMIM:619951
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T... OMIM:169400
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Retinal degeneration, Cardiomegaly, Arrhythmia, Rod-con... OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorr... ORPHA:2348
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr... OMIM:160900
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem... OMIM:618886
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomega... ORPHA:99931
Joubert Syndrome 33
Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho... OMIM:615512
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal form of the vertebral bodies, Spinal canal stenosis, Hypertrophic cardiom... ORPHA:579
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Spondylolisthesis, Retinopathy, Retinal degeneration, Sever... OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Abnormal left ventricular function, Scol... OMIM:607155
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Small scrotum, Absence of pubertal development, Type II diabetes ... ORPHA:398069
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Increased circulating insulin-like growth factor 1 concentration, Pituit... OMIM:300942
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic stenosis ORPHA:3098
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormality of the gallbladder, ... ORPHA:887
Weismann-Netter Syndrome
Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Anemia, Scoliosis, Kyphosis ORPHA:3344
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly OMIM:105200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Schaaf-Yang Syndrome
Hypogonadism, Cryptorchidism, Micropenis, Scoliosis, Kyphosis OMIM:615547
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Ascites OMIM:602361
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... ORPHA:2635
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Vaginal hernia, Hemivertebra... ORPHA:2916
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Aplastic anemia, Optic disc hypoplasia, Hypogonadism, Ventricular ... OMIM:300514
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m... OMIM:612526
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmoni... OMIM:609008
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,... OMIM:616589
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly... ORPHA:158029
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Seckel Syndrome 7
Lumbar scoliosis, Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Scoliosis, Kyphosis ORPHA:404440
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... OMIM:601859
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Short neck ORPHA:3082
Hurler Syndrome
Abnormal vertebral morphology, Cardiomyopathy, Spinal canal stenosis, Abnormal heart valve morpho... ORPHA:93473
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Hepatomegaly, Scoliosis, Kyphosis ORPHA:90322
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Kyphosis OMIM:618124
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Cryptorchidism, Ventricular septal defect, Hemivertebrae, Hypoplas... ORPHA:77298
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Hypopigmentation of the fundus, Abnormal optic nerve morphology, Kyphosis ORPHA:77300
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Mitral valve pr... OMIM:177850
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Cryptorchidism, Delayed puberty, Scoliosis, Kyphosis ORPHA:3121
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Aplas... OMIM:271520
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cantú Syndrome
Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb... ORPHA:1517
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... ORPHA:2789
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen... ORPHA:3226
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Lumbar hyperlordosis, Increased vertebral height, Pancytopen... OMIM:613385
Emanuel Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Truncus arteriosus, Pulmonic st... OMIM:609029
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val... OMIM:231005
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidism, Mitral valve prol... OMIM:619745
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Ventricular septal defect, Th... OMIM:235255
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Abnormality of the uterus, Abnormal morphology of female i... ORPHA:991
Alstrom Syndrome
Irregular menstruation, Pigmentary retinopathy, Dilated cardiomyopathy, Insulin-resistant diabete... OMIM:203800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Scoliosis, Kyphosis, Retinal dystrophy ORPHA:464282
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Mosaic Trisomy 20
Spinal canal stenosis, Cryptorchidism, Abnormal mitral valve morphology, Vertebral segmentation d... ORPHA:1724
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Congestive... OMIM:615895
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Lymp... ORPHA:3386
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse ORPHA:137834
Aredyld Syndrome
Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Hepatomegaly, Scoliosis ORPHA:1133
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right... ORPHA:3427
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, HbH hemoglobin, Cryptorchidism, Kyphoscoliosis, Ventricular septal defect, Perimembr... OMIM:301040
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Short neck, Dextrocardia, Micropenis, Scoliosis, Kyphosis OMIM:248700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Sandhoff Disease
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatom... OMIM:268800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Hyperlordosis, Right bund... ORPHA:268
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy OMIM:614979
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Rod-c... ORPHA:2047
Koolen-De Vries Syndrome
Hypospadias, Cryptorchidism, Vertebral segmentation defect, Bicuspid aortic valve, Hypothyroidism... ORPHA:96169
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Kyphoscoliosis, Pulmonary arterial hypertension, Atrial ... OMIM:608149
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Splenomegaly, Short neck, Anter... ORPHA:584
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Ventricular escape rhythm, Hyperlordosi... ORPHA:98855
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Splenomegaly, Ventricular septal defect, Retinal degeneration, Hep... OMIM:615630
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Chorioretinitis, Hepatomegaly, Thromb... ORPHA:294
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Mitral regurgitation, H... OMIM:253010
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Camurati-Engelmann Disease
Optic atrophy, Abnormality of the vertebral column, Hypogonadism, Hypertrophic cardiomyopathy, Le... ORPHA:1328
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Short nec... OMIM:619879
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Kyphosis, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Short n... ORPHA:98863
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy ORPHA:391428
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,... OMIM:619463
Townes-Brocks Syndrome 2
Scoliosis, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo... OMIM:185070
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula... ORPHA:98853
Wilson Disease
Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Splenomegaly, Hepatic steatosis, ... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:252605
Cohen Syndrome
Optic atrophy, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Chorioretinal dy... ORPHA:193
Harrod Syndrome
Kyphosis, Scoliosis, Hypospadias, Cryptorchidism ORPHA:2115
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp... OMIM:616028
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Short neck, Increased serum testosterone le... ORPHA:247768
Mucopolysaccharidosis Type 3