Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

low density lipoprotein receptor-related protein 2
b2b1625.2Clo,  D230004K18Rik,  Megalin,  Gp330

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Lrp2 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.

The table below shows human diseases associated to Lrp2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lrp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... OMIM:609129
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Vestibular dysfunction OMIM:616044
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... ORPHA:206484
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Omphalocele, Autosomal
Omphalocele, Inguinal hernia OMIM:164750
Genitopalatocardiac Syndrome
Renal cyst, Micrognathia, Double outlet right ventricle, Right aortic arch, Ventricular septal de... OMIM:231060
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Congenital diaphragmatic hernia... OMIM:615524
Omphalocele ORPHA:660
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, High palate, Holoprosencephaly, Lobar ho... OMIM:609637
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Ambiguous genitalia OMIM:618901
Omphalocele, X-Linked
Omphalocele OMIM:310980
Fetal Minoxidil Syndrome
Cryptorchidism, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Umbilical hernia ORPHA:1918
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Hydronephrosis, Micrognathia, Inguinal hernia, Single ventricl... OMIM:601186
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Azoospermia, ... ORPHA:90797
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... OMIM:228940
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Elevated circulating luteinizing ho... OMIM:273250
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Short distal phalanx of fi... OMIM:601355
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Short toe, Umbilical h... OMIM:615297
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Atrial septal defect, Cryptorchidism, Wide nasal bridge, Short thumb, Abnormal he... ORPHA:401935
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Underdeveloped nasal alae, Renal hypoplasia/aplasia, Micrognathia, Short distal p... ORPHA:2516
Abnormality of urine homeostasis OMIM:260800
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Fusion of the left and right thalami, Solitary median... OMIM:610828
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... OMIM:619452
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Bilateral cry... OMIM:261550
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormality of the external ... ORPHA:141091
Holoprosencephaly 2
Bifid uvula, Solitary median maxillary central incisor, Agenesis of corpus callosum, Cerebellar h... OMIM:157170
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Holoprosencephaly 4
Semilobar holoprosencephaly, Depressed nasal bridge, Median cleft lip and palate, Median cleft li... OMIM:142946
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased serum testosterone concentra... OMIM:614841
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Ambiguous genitalia, Mic... OMIM:615542
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Polycystic ovaries, Test... ORPHA:90795
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Holoprosencephaly OMIM:611638
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Absence of pubertal development, Micro... OMIM:614840
Thymic Aplasia With Fetal Death
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Truncus arteriosus OMIM:274210
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Maternal diabetes, Patent d... ORPHA:860
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Micropenis, Decreased ser... OMIM:618841
Increased serum testosterone level, Increased serum serotonin, Abnormal circulating gonadotropin ... ORPHA:180229
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the lungs... ORPHA:2570
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Long nose, Dental malocclusion, Premature ovarian insufficiency, Horse... ORPHA:363444
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Dextrocardia, Micrognathia, Microphthalmia, Prominent nose OMIM:221950
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Anophthalmia, Cleft upper lip, Solitary median maxillary cen... OMIM:147250
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Dent Disease 2
Increased circulating lactate dehydrogenase concentration, Nephrocalcinosis, Elevated circulating... OMIM:300555
Hartsfield Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencepha... ORPHA:2117
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Global brain atrophy, Re... OMIM:611722
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Hypoplasia of the uterus, Abnormal ... ORPHA:247768
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Cleft ala nasi, Dandy-Walker malformation, Microphthal... OMIM:164180
Meckel Syndrome, Type 8
Anophthalmia, Encephalocele, Cleft upper lip, Depressed nasal ridge, Microcephaly, Microphthalmia... OMIM:613885
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Delayed puberty OMIM:233270
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Recurrent respiratory in... OMIM:619466
8P23.1 Duplication Syndrome
Adrenal insufficiency, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal... ORPHA:251076
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Hypoplasia of the maxilla, Short distal phalanx of fi... OMIM:614261
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Emanuel Syndrome
Renal agenesis, Patent ductus arteriosus, Atrial septal defect, Micropenis, Renal hypoplasia, Cry... OMIM:609029
Rowley-Rosenberg Syndrome
Aminoaciduria, Cor pulmonale, Reduced subcutaneous adipose tissue, Right ventricular hypertrophy OMIM:268500
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Microcephaly, Microphthalmia, Depressed nasal bridge, Holoprosencephaly, Antever... OMIM:612530
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Aplasia of the uterus, Female hypog... ORPHA:755
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Partial agene... OMIM:604213
47,Xyy Syndrome
Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia, Micropenis, Oligospe... ORPHA:8
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Stankiewicz-Isidor Syndrome
Absent thumb, Pineal cyst, Patent ductus arteriosus, Ureteral duplication, Micropenis, Cryptorchi... OMIM:617516
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Anosmia, Patent ductus arteriosus, Micropenis, Choanal stenosis, C... OMIM:147770
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... ORPHA:91348
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Convex nasal ridge, Wide nasal bridge, Microphthalmia, Retrog... OMIM:618804
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Cleft palate ORPHA:945
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism OMIM:617796
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Nephrogenic diabetes insipidus, M... OMIM:208085
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia OMIM:601348
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Non-midline cleft lip, Bilateral cleft lip and palate, Tooth agenesis, Men... ORPHA:2003
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Underdeveloped nasal alae, Truncus arteriosus OMIM:611867
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Omphalocele, Vascular ring, Ven... OMIM:601927
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Decreased te... ORPHA:1646
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Holoprosencephaly 11
Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Mandibular prognathia, Cryptorchidism ORPHA:3434
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Congenital diaphragmatic hernia, Micrognathia, Abnormality o... ORPHA:1166
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversu... OMIM:615415
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Bulbous nose, Small cerebral cortex, Ventriculomegaly, ... ORPHA:2185
Trisomy 1Q
Anophthalmia, Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Congenital diaphragmatic ... ORPHA:261344
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Depressed nasal... ORPHA:488635
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Depressed nasal ridge, Respiratory failure, Micrognathia, Dyspne... ORPHA:1832
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydroce... ORPHA:96181
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Abnormal... ORPHA:2302
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Abnormality of the kidney, Ventriculom... ORPHA:93274
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Respi... ORPHA:171703
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, 11 pairs of ribs, Pulmonic stenosis, Anterior open-bite malocclusion, Short... OMIM:617877
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Nephrogenic diabetes insipidus, Ventricular septal defe... OMIM:613404
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus OMIM:616589
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Cerebral cortical atro... ORPHA:1164
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Broad nasal tip, Short philtrum, Anophthalmia, Bulbous nose, Occipital ... ORPHA:411986
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Retractile... ORPHA:163976
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Low-frequency sensorineural hearing impairment, Abnormal speec... ORPHA:87884
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Patent ductus arteriosus, Pancreatic cysts, Atrial... OMIM:267010
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Respiratory failure, 3-Methylglutaconic acid... OMIM:617248
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Increased endomysial connective tiss... ORPHA:353
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Depressed nasal ridge, Hydronephrosis, Micrognathia, Hypoplastic left heart,... ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Anteverted nares, Dilated fourth ventricle, Cerebellar hypoplasia, Open mou... OMIM:617751
Anteverted nares, Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar hypoplasia, Respiratory failure, Ventriculomegaly, Micrognathia, Respiratory insuffici... OMIM:618291
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Aplasia/Hypoplasia affecting the eye, Mic... ORPHA:1590
Trisomy 13
Anophthalmia, Abnormality of the ureter, Patent ductus arteriosus, Hernia, Atrial septal defect, ... ORPHA:3378
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter OMIM:617577
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... OMIM:608978
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Congenital Disorder Of Glycosylation, Type Iig
Anteverted nares, Rhizomelia, Hydronephrosis, Cryptorchidism, Wide nasal bridge, Micrognathia, An... OMIM:611209
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Bifid scrotum, Abnor... OMIM:264600
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Umbilical hernia, Elbow flexion contracture, Wide nasal bridge, Micrognathia, Knee flexion contra... OMIM:616266
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Wide nas... ORPHA:1908
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Conotruncal defect, Aplasia/hypoplasia involving bones of the lower lim... ORPHA:40366
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Anencephaly, Unilateral cleft lip, Microp... ORPHA:2189
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619665
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Micropenis, Hydronephrosis, Cryptorchidism, Macroglossia, HbH hemoglobin, Absent ... OMIM:301040
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Joint contracture of the hand, Atrial septal defect, Cryptorchidism, Wide nasal... ORPHA:352490
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria OMIM:189800
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis, Optic disc hypoplasia DECIPHER:70
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, Multiple join... ORPHA:324604
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Hydronephrosis, Double outlet right vent... OMIM:220210
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Microphthalmia, Right ventricular hypertro... ORPHA:335
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomega... ORPHA:85179
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size OMIM:146110
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, Hypoplasia of p... ORPHA:990
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Cr... OMIM:610978
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Respiratory in... OMIM:616081
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Abnormality of the kidney, Macroglossia, Maturity-onset di... ORPHA:99886
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorchidi... OMIM:179613
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Hydronephrosis, Narrow nose, Micrognathia, Inguinal hernia, Short nose, Patent fo... OMIM:618454
Scimitar Syndrome
Tricuspid atresia, Hernia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventric... ORPHA:185
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Short ... ORPHA:261120
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Uraciluria, Microphthalmia, Microcephaly OMIM:274270
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial sept... OMIM:108900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Patent foramen ovale, Renal hypoplasia, Joint contracture of the 5th finge... OMIM:618914
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Interrupted aortic arc... OMIM:600001
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microphthalmia, Microcephaly, Hypoplasia of the brainstem, Cortical dyspla... OMIM:615771
Feingold Syndrome Type 1
Horseshoe kidney, Tricuspid atresia, Patent ductus arteriosus, Hydronephrosis, Tricuspid stenosis... ORPHA:391641
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Velocardiofacial Syndrome
Tetralogy of Fallot, Bulbous nose, Underdeveloped nasal alae, Cryptorchidism, Inguinal hernia, Hy... OMIM:192430
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ve... OMIM:617713
Microgastria-Limb Reduction Defects Association
Absent thumb, Unilateral renal agenesis, Absent gallbladder, Hypoplasia of the ulna, Anophthalmia... OMIM:156810
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypoplasia of penis, Hypogonadism ORPHA:85274
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of... OMIM:611603
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory failure, Wide nasal bridge, Centr... ORPHA:168486
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... ORPHA:2872
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Microcephaly 17, Primary, Autosomal Recessive
Renal agenesis, Agenesis of corpus callosum, Bulbous nose, Cerebellar hypoplasia, Ventriculomegal... OMIM:617090
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Hypoplasia of penis, Microph... ORPHA:77298
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Emanuel Syndrome
Unilateral renal agenesis, Multiple joint contractures, Patent ductus arteriosus, Delayed eruptio... ORPHA:96170
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar hypoplasia, Hypoplasia of the pons, Ventriculomegaly, Death in childhood, Micr... OMIM:613153
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short 5th metacarpal, Patent ductus arteriosus, Pseudocoarctation of the aorta, Bicuspid aortic v... OMIM:604381
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Catel-Manzke Syndrome
Overriding aorta, Cryptorchidism, Dextrocardia, Coarctation of aorta, Micrognathia, Inguinal hern... OMIM:616145
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Micrognathia, Omphalocele, Ventricular septal defect, Torticollis, Cardiomegaly... OMIM:617022
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Hypoplasia of penis, Micrognathia, Abnormality of the upper urinary tra... ORPHA:2547
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Short palm, Patent ductus arteriosus, Micropenis, Renal hypoplasia, Cryptorchidis... ORPHA:171839
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, Micr... OMIM:608716
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Bulbous nose, Microcephaly, Simplified gyral patte... OMIM:618492
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... ORPHA:79126
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Diastasis recti, Tricuspid atresia, Pulmonary artery hypoplasi... ORPHA:1686
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Bicuspid aortic valve, Patent ductus arteri... ORPHA:228190
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Male hypog... ORPHA:163971
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Wide nasal bridge, Microcephaly, Microphthalmia, Holop... ORPHA:1598
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Micropenis, Lissencephaly, Pachygyria, Death in infancy OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
49,Xxxxy Syndrome
Delayed eruption of teeth, Renal hypoplasia/aplasia, Depressed nasal ridge, Asthma, Pulmonary emb... ORPHA:96264
Cerebrooculonasal Syndrome
Hydrocephalus, High palate, Narrow palate, Anophthalmia, Encephalocele, Solitary median maxillary... OMIM:605627
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Flexion contra... OMIM:619040
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Abnorm... ORPHA:251510
Microform Holoprosencephaly
Renal agenesis, Intrauterine growth retardation, Agenesis of corpus callosum, Asthma, Panhypopitu... ORPHA:280200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart... OMIM:265380
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Distal Monosomy 7Q36
Bulbous nose, Non-midline cleft lip, Microcephaly, Holoprosencephaly, Cleft palate, Wide mouth ORPHA:1636
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome, Jaundice ORPHA:60
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Cerebellar hypoplasia, Respiratory failure, Ventriculomegaly, Microcephaly, Cerebral ... ORPHA:370968
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Inguinal hernia,... OMIM:616028
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Increased urine succinate level, Hepatomegaly, Ventricular hypertrophy OMIM:619048
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Holoprosencephaly 3
Central diabetes insipidus, Single naris, Bifid uvula, Solitary median maxillary central incisor,... OMIM:142945
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum, Wide nasal bridge, Hypoplasia of penis, Abnormality of the urinary s... ORPHA:1621
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Acromesomelia, Anteverted nares, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, ... ORPHA:500159
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Holoprosencephaly, Recurrent Infections, And Monocytosis
Micropenis, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:610680
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Atrial septal defect, Abnormally large globe, Knee flexion contracture, ... OMIM:603387
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Micrognathia OMIM:619501
Chromosome 3Q13.31 Deletion Syndrome
High palate, Short philtrum, Agenesis of corpus callosum, Ventriculomegaly, High, narrow palate, ... OMIM:615433
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Cerebellar hy... ORPHA:899
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Left ventricular hypertrophy, Flexion contracture, Abnormal renal corticomedulla... OMIM:616733
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Micrognathia, Spina bifida, Ventricular septal defect, Mandibular prognat... ORPHA:508498
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Depressed nasal bridge, Ventricular sept... ORPHA:1913
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Anteverted nares, Polymicrogyria, Wide mouth OMIM:300982
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft lip and palate, Anterior encephalocele, Absent septum pellucidum... OMIM:601357
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Short hallux, Wide nasal brid... OMIM:239850
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Atrial septal defect, Convex nasal ridge, Micromelia, Umbilical hernia... ORPHA:1035
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Nasal congestion, Anomalous pulmonary venous return, Respir... ORPHA:244
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia af... ORPHA:3376
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Endocardial Fibroelastosis
Cryptorchidism OMIM:226000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Micropenis, Anterior hypopituitarism, Micrognath... OMIM:241800
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Micropenis, Cryptorchidism, Muscular dystroph... OMIM:613156
Mccune-Albright Syndrome
Abnormal endocrine physiology, Abnormal testis morphology, Increased serum testosterone level, Ab... ORPHA:562
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Cryptorchidism, Hydronephrosis, Wide nasal ... ORPHA:2059
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Tracheomalacia, Micrognathia, Mandibular aplasia, Respiratory distre... OMIM:202650
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Hematuria, Proteinuria, Angioedema... ORPHA:36412
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Flared nostrils, Wide nasal b... OMIM:312170
Acrocardiofacial Syndrome
Tetralogy of Fallot, Atrial septal defect, Cryptorchidism, Hyperthyroidism, Wide nasal bridge, Hy... ORPHA:2008
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atrial sep... OMIM:619769
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Anteverted nares, Patent ductus arteriosus, Right ventricular hypertrophy OMIM:613623
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... OMIM:619302
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorc... OMIM:612541
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Choanal atresia, S... OMIM:619227
Mungan Syndrome
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Agenesis of corpus callosum, Bulbous nose, Parietal cortical atrophy, Micrognathia, Death in chil... OMIM:618766
Holoprosencephaly OMIM:600674
Donnai-Barrow Syndrome
Proteinuria, Congenital diaphragmatic hernia, Omphalocele, Depressed nasal bridge, Ventricular se... ORPHA:2143
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Perisylvian polymicrogyria,... OMIM:600118
Ovarian Dysgenesis 2
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... OMIM:300510
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Vaginal atresia, Transverse vaginal septum, Vesicovaginal f... OMIM:236700
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Hydrocephalus, Apnea, D... OMIM:300864
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly, Holoprosencephaly, Cleft palate, Median cleft lip ORPHA:2165
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Hypoplasia of the ulna, Absent radius, Atrial septal defect, Wide nasal brid... OMIM:600123
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Renal agenesis, Anophthalmia, Horseshoe kidney, Phocomelia, Renal hypoplasia/aplas... ORPHA:2538
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Decrease... ORPHA:179494
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Lacticaciduria, Methylmalonic aciduria, Intrauterine growth retardation, Respir... OMIM:245400
Amish Lethal Microcephaly
Agenesis of corpus callosum, Ventriculomegaly, Micrognathia, Microcephaly, Lissencephaly, Spina b... ORPHA:99742
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Weiss-Kruszka Syndrome
Anteverted nares, Dextrotransposition of the great arteries, Ventricular septal defect, Bicuspid ... OMIM:618619
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ovarian neoplasm, Elev... OMIM:615723
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Imerslund-Grasbeck Syndrome 1
Paresthesia, Somatic sensory dysfunction, Proteinuria OMIM:261100
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Bulbous nose, Arthrogryposis-like hand anomaly, Cryptorchidism, Wide nasal ... ORPHA:369891
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Emphysema, Chylothorax, Renal angiomyolipoma, Restrictive ventilatory defect, Abnormal urinary co... ORPHA:538
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Hypospadias, Micrognathia, Death in childhood OMIM:211200
Frontonasal Dysplasia 1
Broad nasal tip, Agenesis of corpus callosum, Cranium bifidum occultum, Pericallosal lipoma, Wide... OMIM:136760
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-W... ORPHA:2162
Tangier Disease
Facial diplegia, Splenomegaly, Hepatomegaly, Coronary artery atherosclerosis, Atherosclerosis, Di... OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Agenesis of corpus callosum, Cerebellar hypoplasia, Mi... OMIM:253800
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasi... ORPHA:2326
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short toe, Campt... OMIM:613458
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Elevated hepa... OMIM:614817
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short nose, Abnormal cardia... ORPHA:1200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Agenesis of corpus callosum, Occipital encephalocele, Hydronephrosis, Anencephaly, Mi... OMIM:615287
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Abnorm... ORPHA:3092
Cofs Syndrome
Cerebral calcification, Intrauterine growth retardation, Cutaneous photosensitivity, Wide nasal b... ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Respiratory failure, Focal T2 hyperintense tha... OMIM:619057
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Micrognathia OMIM:616570
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450