Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hydrometra Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart left ventricle morphology Calb1em1(IMPC)Ccpcz HOM   Early adult 4.61×10-06
small testis Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
increased cardiac muscle contractility Calb1em1(IMPC)Ccpcz HOM Early adult 4.48×10-07
hypoactivity Calb1em1(IMPC)Ccpcz HOM   Early adult 6.79×10-05
enlarged thymus Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Calb1em1(IMPC)Ccpcz HOM Early adult 4.94×10-11
abnormal vertebrae morphology Calb1em1(IMPC)Ccpcz HOM Early adult 4.94×10-11

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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.


XRay Images Whole Body Dorso Ventral

28 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Hind Leg and Hip

28 Images


XRay Images Forepaw

14 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

14 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
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
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
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Babinski sign, Ab... ORPHA:101007
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Attention deficit hyperactivity disorder, Broad-based... OMIM:617665
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality, Ataxia, Spasticity OMIM:619228
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Epilepsy, Progressive Myoclonic, 11
Ataxia, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, EEG abnormality, Myoclonus, Babins... OMIM:606777
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Macroorchidism, Congestive heart failure, Cardiomegaly, Kyphoscoliosis OMIM:300886
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Abnormal nervous system electrophysiology, Myoclonus, Dys... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Ataxia, Interictal epileptiform activity, EEG with polyspike wave ... OMIM:254800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Cardiomegaly OMIM:227150
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Ataxia OMIM:204500
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly... OMIM:235200
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Atrial flutter, Macroorchidism, Abnormal atrioventricular valve... ORPHA:324410
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity OMIM:617691
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Ovoid thoracolumbar vertebrae, Cardiomegaly, Splenom... OMIM:252920
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Decreased nerve ... ORPHA:280234
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal heart valve morphology, Hepatomegaly, Spinal canal stenos... ORPHA:93476
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Limb dysmetria, Babinski sign, Distal sensory impairment OMIM:600223
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Lethargy, Arrhythmia, Amenorrhea, Erectile dysfunction, Hepatocellular ca... ORPHA:465508
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia OMIM:616267
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Athetosis OMIM:615159
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Congestive heart failure, Cardiomegaly OMIM:618654
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Accessory spleen, Atrial septal defect, Bi... OMIM:618280
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... ORPHA:481
Mirage Syndrome
Scoliosis, Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Intracranial hemorrhage,... OMIM:617053
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal de... OMIM:601186
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Cardiomegaly, Overriding aorta,... OMIM:617022
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Tricuspid regurgitatio... OMIM:618652
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Lymphadenopathy ORPHA:858
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, L... OMIM:619151
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Carnitine Deficiency, Systemic Primary
Lethargy, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine level in liver, Hepa... OMIM:212140
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomega... OMIM:256550
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Ambiguous genitalia, Abnormality of the uterus, Abnormal morphology of female int... ORPHA:2138
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular septal defect, Vert... ORPHA:1926
Scoliosis, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Hepatomegaly, Anterior beaking of l... OMIM:230000
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Ataxia, Sideroblastic anemia, Thrombocytopenia, Testicular ... OMIM:222300
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Pulmonic valve myxoma, Congestive... ORPHA:615
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, ... OMIM:600649
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Anomalous pulmonary venous return, Situs inversus totalis, A... ORPHA:3097
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Attrv30M Amyloidosis
Arrhythmia, Impotence, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Cantu Syndrome
Platyspondyly, Ovoid vertebral bodies, Pericardial effusion, Cuboid-shaped vertebral bodies, Cong... OMIM:239850
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Hypoplasia of the vagina, Vertebral segm... ORPHA:3109
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, Increased r... OMIM:603903
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec... OMIM:602782
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Atrial septal defect ORPHA:89844
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular atrophy, First degree atrioventri... OMIM:160900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Cardiomegaly, Prolonged QT interval, Patent foramen ov... OMIM:601005
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Fused cervi... ORPHA:3320
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... ORPHA:210122
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Hypertension, Cerebral hemorrhage, Card... OMIM:618886
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Elevated circulating luteinizing hormone level, Attention deficit hype... OMIM:305400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Hydatidiform Mole
Menometrorrhagia, Anemia, Enlarged uterus, Spontaneous abortion, Hyperthyroidism ORPHA:99927
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Congestive hea... OMIM:619259
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Arrhythmia, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Perrault Syndrome 4
Increased circulating gonadotropin level, Gait ataxia, Oligomenorrhea, Hypoplasia of the uterus, ... OMIM:615300
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Scoliosis, Absent external genitalia, Persistent cloaca, Hemive... ORPHA:94095
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Severe platyspondyly, Hypertension, Cardiomegaly, Pulmonary arterial hypertens... OMIM:613320
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Anomalous pulmonary ... ORPHA:2311
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Ventricular septal defect, Cardiomegaly, Hypospadias, Short neck, Micropenis, Hype... OMIM:616897
Satoyoshi Syndrome
Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidu... ORPHA:3130
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Lethargy, Hepatocellular necrosis, Hepatic steatosis, Periportal fibro... OMIM:201475
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Inability to walk, Reduced ejection fraction, Spinal rigidity, Right ventricular h... ORPHA:268
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Bifid scro... ORPHA:887
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Scoliosis, Supernumerary vertebrae, Absent external genitalia, Hemivertebrae, V... OMIM:271520
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Arrhythmia, Hepatic steatosis, Ataxia, Hepatomegaly, Cardiomegaly ORPHA:42
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Refsum Disease, Classic
Arrhythmia, Ataxia, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:266500
Mucolipidosis Ii Alpha/Beta
Lower thoracic interpediculate narrowness, Aortic regurgitation, Beaking of vertebral bodies T12-... OMIM:252500
Hypothyroidism, Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Cardiomegaly, Abnor... ORPHA:349
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morphology, Enlarged ki... OMIM:314390
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column OMIM:601076
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Histiocytoid Cardiomyopathy
Lethargy, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibri... ORPHA:137675
Developmental And Epileptic Encephalopathy 95
Scoliosis, Cryptorchidism, Inability to walk, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly OMIM:618143
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Ventricular septal defect, Hemivertebrae, Hypoplas... ORPHA:77298
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Townes-Brocks Syndrome 2
Scoliosis, Bifid uterus, Rectovaginal fistula, Spina bifida occulta, Hypospadias OMIM:617466
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Impotence, Ataxia, Cardiomegaly, Cardiomyop... OMIM:105210
Hypertrichotic Osteochondrodysplasia, Cantu Type
Platyspondyly, Abnormal heart valve morphology, Ovoid vertebral bodies, Cuboid-shaped vertebral b... ORPHA:1517
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Anemia OMIM:618838
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Sandhoff Disease
Orthostatic hypotension, Impotence, Ataxia, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelp... ORPHA:2237
Seckel Syndrome 7
Central hypothyroidism, Lumbar scoliosis, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Cryptorchidism, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, V... OMIM:300967
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Kennerknecht Syndrome
Short neck, Hypoplasia of the uterus, Agonadism, Thoracolumbar scoliosis OMIM:600908
Woodhouse-Sakati Syndrome
Dystonia, Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasi... OMIM:241080
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly OMIM:232300
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Greenberg Dysplasia
Vertebral hypoplasia, Platyspondyly, Supernumerary vertebral ossification centers, Punctate verte... OMIM:215140
Pearson Syndrome
Cardiac conduction abnormality, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, ... ORPHA:699
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Sacral segmentation defect, Ambiguous ge... OMIM:258040
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Hypergonadotropic hypogonadism, Bradykinesia, Primary amenorrhea, Testicular atrophy... OMIM:157640
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hep... OMIM:618278
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mell... ORPHA:96191
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Ventricular septal defect, Leukocytosis, Pancreatic cysts, Thrombocytopenia... OMIM:274000
Mucopolysaccharidosis Type 3
Scoliosis, Recurrent tonsillitis, Reduced ejection fraction, Abnormal form of the vertebral bodie... ORPHA:581
Gaucher Disease, Perinatal Lethal
Akinesia, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:608013
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Hypoplasia of the fallopian tube, Abnormal spermatoge... ORPHA:3464
Cirrhosis, Gait ataxia, Steppage gait, Reticulocytosis, Hepatic steatosis, Hypothyroidism, Ataxia... ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Lethargy, Arrhythmia, Enlarged kidney, Macrovesicular hepatic... OMIM:608836
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Cardiomegaly, Abnormal heart morphology OMIM:114620
Myhre Syndrome
Cryptorchidism, Platyspondyly, Atrial septal defect, Ventricular septal defect, Pericardial effus... OMIM:139210
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Lumbar hemivertebrae, Mucosal telangiectasiae, Abnormality of the thymus ORPHA:2463
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Primary amenorrhea, Septate vagina, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, ... OMIM:146255
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Arrhythmia, Chordee, Ventricular septal defect, Clitoral hypertr... OMIM:309801
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Pancreatic hyperpl... OMIM:130650
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Scoliosis, Dystonia, Difficulty walking, Hypothyroidism, Ch... ORPHA:51
Okamoto Syndrome
Scoliosis, Bifid uterus, Abnormal heart morphology, Ventricular septal defect, Abnormal mitral va... ORPHA:2729
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618798
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Dystonia OMIM:300322
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Le... ORPHA:308552
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis, Short neck, Aplasia/Hypoplasia of the... ORPHA:2879
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis, Inability to walk, Difficulty walking, Left ventricular outflow tract o... ORPHA:365
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Aplasia of the uterus, Atrial septal defect, Accessory spleen, Abnorma... OMIM:194190
Williams Syndrome
Scoliosis, Cryptorchidism, Abnormal endocardium morphology, Mitral regurgitation, Cardiomegaly, S... ORPHA:904
Proteus Syndrome
Scoliosis, Thymus hyperplasia, Ovarian neoplasm, Long penis, Abnormal form of the vertebral bodie... ORPHA:744
Steinert Myotonic Dystrophy
Male hypogonadism, Cardiac conduction abnormality, Falls, Ovarian carcinoma, Hypergonadotropic hy... ORPHA:273
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Scoliosis, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal ... ORPHA:91387
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Abnormal heart morphology, Penoscrotal transposition... ORPHA:322
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Ventricular... OMIM:236680
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hepatic steatosis, Hepatomegaly, Hepatic calcification, Cardiomegaly, Heart block, Ab... ORPHA:228308
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Platyspondyly, Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicus... OMIM:245600
Chromosome 17Q12 Deletion Syndrome
Scoliosis, Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the ut... OMIM:614527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Scoliosis, Aplasia of the uterus, Hyperactivity, Aplasia of the vagina ORPHA:457284
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Cryptorchidism, Abnormality of the Leydig cells, Kyphosis, Testicular atrophy,... ORPHA:3063
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
Beckwith-Wiedemann Syndrome
Cryptorchidism, Exocrine pancreatic insufficiency, Enlarged kidney, Pseudohypoparathyroidism, Gon... ORPHA:116
Osteogenesis Imperfecta
Scoliosis, Aortic regurgitation, Abnormal form of the vertebral bodies, Biconcave vertebral bodie... ORPHA:666
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Arrhythmia, Microcytic anemia, Irregular menstruation, Elevated circulating thyroid... OMIM:256040
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Bohring-Opitz Syndrome
Inability to walk, Cholelithiasis, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia,... ORPHA:97297
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Ventricular septal defect, Urethral valve, Hypothyro... OMIM:107480
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Ventricular septal defect, Patent foramen ovale, Short neck, Transp... OMIM:256520
Rubinstein-Taybi Syndrome 1
Scoliosis, Cryptorchidism, Bifid uterus, Atrial septal defect, Arrhythmia, Ventricular septal def... OMIM:180849
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Hemothorax, Uterine rupture, Cystocele, Diffuse alveolar h... OMIM:130050
Coffin-Siris Syndrome 1
Scoliosis, Cryptorchidism, Atrial septal defect, Gait ataxia, Ventricular septal defect, Kyphosis... OMIM:135900
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Reduced sperm motility, Exocrine pancreatic insufficiency, ... OMIM:137920
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Hyper... ORPHA:3472
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Primary amenorr... ORPHA:69085
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hemivertebrae, Hypoplastic nipples, Pilonidal sinus, Hypospad... OMIM:276820
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Left ventricular systolic dysfunction, Pericardia... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Peters-Plus Syndrome
Scoliosis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypoplasia of the ute... OMIM:261540
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Sacral dimple, Clitoral hypoplasia, Bicuspid pulmonary ... ORPHA:709
Loeys-Dietz Syndrome
Scoliosis, Cardiac arrest, Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Inability to walk, Cryptorchidism, Small scrotum, Short neck, Atrial septal defect, Ventricular s... OMIM:601803
Norrie Disease
Scoliosis, Cryptorchidism, Erectile dysfunction, Uterine rupture, Delayed puberty, Diabetes melli... ORPHA:649
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Waddling gait, Cardi... OMIM:182250
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Mitral valve prolapse, Internal hemorrhage, Abnormal heart valve morphology, Reno... ORPHA:286


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

There is no histopathology data for Calb1

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 Calb1.

No publications found that use IMPC mice or data for Calb1.

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MGI Allele Allele Type Produced
Calb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calb1em1(IMPC)Ccpcz Inter-exon deletion Mice

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