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Gene: Ak7 MGI:1926051

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Gene Summary

Name:
adenylate kinase 7
Synonyms:
4930502N02Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Ak7em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, incomplete penetrance Ak7em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged heart Ak7em1(IMPC)Ccpcz HET Early adult 0.00
decreased circulating potassium level Ak7em1(IMPC)Ccpcz HET Early adult 3.33×10-05
abnormal spleen morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00
kyphosis Ak7em1(IMPC)Ccpcz HET   Early adult 3.90×10-06
abnormal testis morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Ak7em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spine curvature Ak7em1(IMPC)Ccpcz HET   Early adult 8.11×10-05
abnormal ovary morphology Ak7em1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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FCS thumbnail FCS
MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

1 Images

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Human diseases caused by Ak7 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 Ak7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965

The table below shows human diseases predicted to be associated to Ak7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Short stature, Bronchiectasis, Decreased nasal nitric oxide, Abnor... OMIM:612649
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... OMIM:615500
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:616481
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Bronchiectasis, Decr... OMIM:612650
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile c... OMIM:614935
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... OMIM:613807
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... OMIM:615505
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi... OMIM:613808
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm fla... OMIM:620197
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent... OMIM:614679
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar... OMIM:244400
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Infertility OMIM:615872
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... OMIM:606763
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... OMIM:616037
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Micrognathia, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation, Orbital ... ORPHA:1538
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... OMIM:616726
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... OMIM:617092
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Nasal polyposis, Female infertility, Productive ... ORPHA:244
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Na... OMIM:300991
Lissencephaly 4
Short stature, Wide nasal bridge, Growth delay, Colpocephaly, Cerebellar hypoplasia, Agenesis of ... OMIM:614019
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ciliary Dyskinesia, Primary, 37
Female infertility, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Brachyceph... OMIM:618577
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis, Cerebellar dysplasia OMIM:615041
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis OMIM:603165
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Ethanolaminosis
Cardiomegaly OMIM:227150
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia OMIM:166990
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Craniosynostosis OMIM:148800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hypospadias, Cryptorchidism, Hydrocephalus, Brachycephaly, Abnormal shape of the... OMIM:218350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Gómez-López-Hernández Syndrome
Turricephaly, Anteverted nares, Hydrocephalus, Brachycephaly, Midface retrusion ORPHA:1532
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Hy... OMIM:220200
1Q21.1 Microduplication Syndrome
Frontal bossing, Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:250994
Eosinophilopenia
Allergic rhinitis OMIM:131430
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion OMIM:612247
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Hurler-Scheie Syndrome
Rhinitis, Short stature ORPHA:93476
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis OMIM:253240
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gro... ORPHA:488635
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis OMIM:619607
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Anteverted nares, Lateral ventricle dilatation OMIM:300982
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
H Syndrome
Psoriasiform dermatitis, Short stature, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azo... ORPHA:168569
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Ciliary Dyskinesia, Primary, 20
Productive cough, Absent outer dynein arms, Recurrent pneumonia, Bronchiectasis, Decreased fertil... OMIM:615067
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Cough, Pulmonary arterial hypertension ORPHA:662
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermi... ORPHA:8
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Chronic pulmonary obstru... ORPHA:125
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... OMIM:301082
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Fragile X Syndrome
Mandibular prognathia, Frontal bossing, Sinusitis, Otitis media, Macroorchidism, Chronic otitis m... ORPHA:908
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art... ORPHA:47612
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Intra... OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hy... OMIM:613153
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea ORPHA:157835
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Hypospadias, Anteverted nares, Craniosynostosis, Micrognathia, Depressed nasal brid... ORPHA:171839
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation OMIM:616816
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed p... ORPHA:141333
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch... OMIM:301900
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect ORPHA:1931
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Short stature ORPHA:1882
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Wid... OMIM:175700
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis ORPHA:26137
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Masa Syndrome
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:303350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis, Recurrent aphthous stomatitis ORPHA:486
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature ORPHA:2183
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, Erythroderma OMIM:256500
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebellar h... OMIM:619302
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Brachycephaly, Short nose,... ORPHA:1695
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second... ORPHA:3085
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Eczema, Anteverted nares, Pr... OMIM:617751
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Band Heterotopia
Plagiocephaly, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Central Precocious Puberty In Male
Hydrocephalus, Acne, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc... ORPHA:93262
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Neonatal respiratory distress, Cerebellar dysplasia OMIM:250951
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Hy... ORPHA:207
Ichthyosis Prematurity Syndrome
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma OMIM:608649
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares ORPHA:324422
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Hydrocephalus, Osteomyelitis, Chronic rhinitis due to narrow nasal airway OMIM:259710
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media OMIM:300455
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Hydrocephalus, Wide n... ORPHA:1516
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, Dolicho... OMIM:615433
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis... ORPHA:2552
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Leishmaniasis
Rhinitis ORPHA:507
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased tes... ORPHA:320391
Congenital Hydrocephalus
Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Alg12-Cdg
Wide nose, Hypospadias, Prominent nasal bridge, Cryptorchidism, Recurrent pharyngitis, Recurrent ... ORPHA:79324
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Episodic tachypnea... ORPHA:163961
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Familial Cold Autoinflammatory Syndrome 3
Recurrent otitis media, Asthma, Allergic rhinitis, Hashimoto thyroiditis OMIM:614468
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Bulbous nose, Wide nasal bridge, Respi... ORPHA:1237
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature, Hypogonadotropic hypogonadism, Broad nasal tip OMIM:619420
Gorlin Syndrome
Mandibular prognathia, Frontal bossing, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchid... ORPHA:377
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Frontal bossing, Dilated fourth ventricle, Depressed nasal bridge, Hydrocephal... OMIM:220220
Fried Syndrome
Hydrocephalus, Thickened calvaria ORPHA:85335
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Acalvaria
Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida ORPHA:945
Temple Syndrome
Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Precocious puberty, Cryptorch... OMIM:616222
Hurler Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Growth... ORPHA:93473
Lig4 Syndrome
Psoriasiform dermatitis, Prominent nose, Cryptorchidism, Asthma, Brachycephaly, Wide nasal bridge... OMIM:606593
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hydrocephalus, Anteverted nares OMIM:300884
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalus, Chro... OMIM:609757
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Sco... OMIM:618484
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Elevated circulat... OMIM:300280
Choanal Atresia
Respiratory distress, Subglottic stenosis, Craniosynostosis, Upper airway obstruction, Nasal cong... ORPHA:137914
Temple Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Precocious puberty, Hydrocephalus ORPHA:254516
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Ker... OMIM:123500
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis OMIM:604571
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Retrograde ejaculation, Rhinitis ORPHA:230
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Eczema, Asthma, Hydrocephalus, Chiari malformation OMIM:618162
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis OMIM:613502
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conc... OMIM:616034
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Coach Syndrome 2
Apneic episodes in infancy, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Gr... ORPHA:135
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus, Wide nasal bridge OMIM:618302
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Brachycephaly, Upper air... OMIM:207410
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Asthma, Skin rash, Allergic rhinitis OMIM:612714
Satoyoshi Syndrome
Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Respiratory insufficiency, Hypoplasia of the ventral pons, Lateral ventri... OMIM:607596
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent upper respiratory tract infections, Re... ORPHA:277
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly ORPHA:272
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect ORPHA:352490
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed ... ORPHA:1555
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Myelomeningocele, Respi... ORPHA:1914
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Cerebellar gliosis, Partial agenesis of the corpus callosum, Abnor... ORPHA:79243
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Scheie Syndrome
Rhinitis ORPHA:93474
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Genitopalatocardiac Syndrome
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology,... ORPHA:2075
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature, Cerebellar hypoplasia OMIM:618174
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Fulminan... ORPHA:319213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:616531
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy OMIM:618234
Mirage Syndrome
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Th... OMIM:617053
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Cryptorchidism, Hydrocephalus, Short nose ORPHA:2701
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis OMIM:612692
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Hypokalemia, Oligomenorrhea, Bicon... OMIM:219090
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Reduced progressive sperm ... OMIM:619608
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Craniosynostosis 6
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina, Brachycephaly, Plag... OMIM:616602
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... OMIM:252920
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Depressed nasal bridge, Hydrocephalus, Chiari type I malf... OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis OMIM:615225
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic... OMIM:619123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, Cryptorchidism, Scoliosis, Male ... OMIM:615381
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge OMIM:614870
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Eczema, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Low hanging colume... ORPHA:500159
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdev... ORPHA:228390
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Bilateral cryptorchidism, Brachycephaly ORPHA:314575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverted nares, ... OMIM:608629
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hydrocephalus, Wide nasal bridge, Craniosynostosis ORPHA:380
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Pericarditis, Osteomyelitis, ... ORPHA:449280
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia, Brachycephaly ORPHA:93950
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Respiratory insu... ORPHA:1895
Winchester Syndrome
Kyphosis OMIM:277950
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... OMIM:614736
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ... ORPHA:314478
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Short stature, Eczema, Allergic rhinitis, Osteomyelitis... ORPHA:443811
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Ventriculom... ORPHA:101070
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Dentinogenesis imperfe... OMIM:112240
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Hydrocephalus, Plagiocephaly, Convex nasal ridge ORPHA:85284
Degcags Syndrome
Ventriculomegaly, Hypospadias, Pneumonia, Tracheomalacia, Prominent nasal bridge, Anteverted nare... OMIM:619488
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respirat... ORPHA:93274
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Skin rash, Abnormality of the menstrual cycle... ORPHA:330015
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Short stature, Hypospadias, Lateral ventricle dilatation OMIM:618330
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Bronchiectasis, Mal... OMIM:242860
Eosinophilic Gastroenteritis
Asthma, Atopic dermatitis, Allergic rhinitis ORPHA:2070
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism OMIM:180870
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... OMIM:252605
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... ORPHA:85451
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Brachycephaly OMIM:615985
Thalidomide Embryopathy
Short stature, Chronic rhinitis ORPHA:3312
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respiratory insufficien... ORPHA:2655
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligozoospermia OMIM:314300
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Severe postnatal growth r... ORPHA:3078
Gapo Syndrome
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Anteverted nares, Dysmenorrhea... ORPHA:2067
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Muenke Syndrome
Hydrocephalus, Brachycephaly, Plagiocephaly, Malar flattening, Coronal craniosynostosis ORPHA:53271
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E... ORPHA:352447
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Type II ... ORPHA:3191
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Hydrocephalus, Wide nasa... OMIM:613603
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat... ORPHA:400
Adams-Oliver Syndrome 2
Depressed nasal bridge, Hydrocephalus, Bulbous nose, Retrocerebellar cyst, Lateral ventricle dila... OMIM:614219
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... OMIM:613443
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... ORPHA:231632
Pontocerebellar Hypoplasia, Type 7
Apnea, Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... OMIM:614969
Hec Syndrome
Communicating hydrocephalus, Abnormality of the pharynx, Vaginal hydrocele, Respiratory insuffici... ORPHA:2119
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Mandibular prognathia, Brachycephaly, Lateral ventricle dilatation ORPHA:85290
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Depressed nasal bridge, Apnea, Anteverted nares, Wide nasal bridge... OMIM:610015
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Ventriculomegaly, Short stature, Hypospadias, Anteverted nares, Depress... OMIM:257300
Cleidocranial Dysplasia
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Sinusitis, Depressed nasal bri... ORPHA:1452
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Scoliosis ORPHA:79327
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Hypospadias, Micrognathia, Hydrocephalus, Brachycephaly, Prominent occipu... OMIM:220210
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, Chiari malformation, Hypogonadism,... ORPHA:96170
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short stature, Prominent nasal bridge, Hydrocephalus, Short nose OMIM:300558
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Diabetic Embryopathy
Frontal bossing, Micrognathia, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abno... ORPHA:1926
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly,... ORPHA:77298
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Re... OMIM:618291
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia OMIM:614120
Lowry-Maclean Syndrome
Short nasal bridge, Hypospadias, Choanal atresia, Craniosynostosis, Micrognathia, Bilateral crypt... ORPHA:2409
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Recurrent ot... OMIM:307200
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Primary hyperaldosteronism, Le... OMIM:615474
Immunodeficiency 20
Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s... OMIM:615707
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Rhinitis, Depressed nasal bridge OMIM:614941
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... ORPHA:769
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Tachypnea, Dilated third ventricle,... ORPHA:397715
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth reta... OMIM:225790
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Asthma, Bronchiectasis, Chro... OMIM:615816
Pfeiffer Syndrome
Mandibular prognathia, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hypoplasia of t... OMIM:101600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... ORPHA:411696
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... ORPHA:2522
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Malar flattening, Ventriculomegaly OMIM:109120
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Ce... OMIM:217090
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes... OMIM:241150
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Depressed n... ORPHA:96264
Trisomy 1Q
Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Cerebellar hypop... ORPHA:261344
Sialidosis Type 2
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog... ORPHA:2180
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Lateral ventricle dilatation ORPHA:77299
Apert Syndrome
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Cloverleaf skull, Depressed na... ORPHA:87
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hydrocephalus, Growth delay, Chronic rhinitis, Otitis media, Pulmonary arterial hypertension ORPHA:667
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... ORPHA:77259
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Natal tooth, Cloverleaf skull, Flat occiput, Hypospadias, Cr... OMIM:123790
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Delayed puberty, Micropenis, Decreased testi... OMIM:300354
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Cerebellar hypoplasia, Intrauter... ORPHA:163966
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Anteverted nares, Hypoplasia of the pons, Asthma, Lateral ventricle... OMIM:618606
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Type II diabetes mellitus, Scoliosis ORPHA:61
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... OMIM:305400
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short ... OMIM:305100
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal ... ORPHA:1908
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Cole-Carpenter Syndrome 2
Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, Dentinogenesis imperfecta, Lambd... OMIM:616294
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short n... OMIM:617822
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ... OMIM:619995
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Anemia OMIM:611489
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Respiratory insufficiency OMIM:617668
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Hydrolethalus
Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Lary... ORPHA:2189
Albers-Schönberg Osteopetrosis
Frontal bossing, Osteomyelitis, Carious teeth, Mandibular osteomyelitis, Osteoarthritis, Hydrocep... ORPHA:53
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Anteverted nares, Cerebellar hypoplasia OMIM:618731
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Coccidioidomycosis
Respiratory distress, Cough, Morbilliform rash, Abnormality of the male genitalia, Abnormality of... ORPHA:228123
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Liddle Syndrome
Hypokalemia ORPHA:526
Mogs-Cdg
Atrial septal defect, Thoracic scoliosis, Hepatomegaly, External genital hypoplasia, Cardiomegaly... ORPHA:79330
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Scaphocephaly, Br... ORPHA:459061
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge, Respiratory failure, Short stature ORPHA:1861
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism ORPHA:3409
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Anteverted nares, Hydrocepha... ORPHA:59315
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Cryptorchidism, Hydrocephalus, Skull asymmetry, Retrognathia, Dandy-Walker malf... OMIM:612938
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... ORPHA:94065
Endocrine-Cerebroosteodysplasia
Natal tooth, Small scrotum, Hypospadias, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydr... OMIM:612651
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Brachycephaly, Lateral ventricle dilatation, Lambdoidal ... OMIM:618736
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puber... ORPHA:213
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Chronic oral candidiasis, R... OMIM:609029
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus ORPHA:363717
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... ORPHA:1946
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn... ORPHA:247768
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Wi... OMIM:614886
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Crypto... ORPHA:254346
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn... ORPHA:3097
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Myocarditis, Respiratory insufficiency... ORPHA:3099
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Ventriculomegaly OMIM:602501
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Agenesis of corpus call... ORPHA:300573
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of... ORPHA:1812
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Optic Pathway Glioma
Growth delay, Precocious puberty, Hydrocephalus ORPHA:2086
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Short stature, Hypospadias, Allergic rhinitis, Allergic conjunct... OMIM:176690
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, W... OMIM:620157
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Cyclic Neutropenia
Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ... ORPHA:2686
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory failure, Hydrocephalus, Respiratory insufficiency OMIM:276950
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... OMIM:613154
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... ORPHA:231580
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Brachycephaly, Plagiocephaly, Hypogonadism, Micropenis, Di... ORPHA:500055
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Apnea, Hyd... ORPHA:220497
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis ORPHA:75840
Apert Syndrome
Mandibular prognathia, Brachycephaly, Choanal stenosis, Chronic otitis media, Acne, Depressed nas... OMIM:101200
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Depressed nasal bridge, Hy... OMIM:616482
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Enlarged fossa interpeduncularis, Agenesis of ce... OMIM:608091
B4Galt1-Cdg
Inflammatory abnormality of the skin, Hydrocephalus, Wide nasal bridge, Cerebellar hypoplasia, Da... ORPHA:79332
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Growth delay, Lateral ventricle dilatation, Short nose OMIM:615716
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... OMIM:300863
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermi... ORPHA:1647
Immunodeficiency 32B
Pneumonia, Sinusitis, Bronchiectasis OMIM:226990
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Scoliosis OMIM:618124
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... OMIM:101800
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral crypto... ORPHA:99429
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Depr... ORPHA:284417
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Short stature, Hypospadias, Depressed nasal bridge, Postna... ORPHA:7
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Hogue-Janssen Syndrome 2
Plagiocephaly, Hydrocephalus, Anteverted nares, Ventriculomegaly OMIM:616362
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Depressed nasal bridge, Dolichocephaly, Abnormal nasal morphology, Hydrocephalu... ORPHA:579
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum, Cer... OMIM:615249
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen... ORPHA:3378
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Schaaf-Yang Syndrome
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Metatropic Dysplasia
Hydrocephalus, Severe short stature, Depressed nasal bridge ORPHA:2635
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardati... OMIM:619833
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wid... OMIM:601499
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia... OMIM:616576
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... ORPHA:349
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Hemimegalencephaly
Cranial asymmetry, Ventriculomegaly ORPHA:99802
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Growth delay, Hypogonadism, Cerebellar hypoplasia,... OMIM:300514
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Brachycephaly, Abnormal ovarian morphology, Choanal stenosis, Micropenis, Abn... ORPHA:95699
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Pfeiffer Syndrome Type 2
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Aqueductal steno... ORPHA:93259
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agen... ORPHA:899
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Hydrocephalus ORPHA:2181
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Intrauteri... OMIM:611134
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, Choroid plexus cyst... ORPHA:1827
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Decreased c... ORPHA:320
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Di... OMIM:607155
Tetrasomy 5P
Respiratory distress, Anteverted nares, Postnatal growth retardation, Hydrocephalus, Wide nasal b... ORPHA:3309
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis ORPHA:583
Bacterial Toxic-Shock Syndrome
Respiratory distress, Pharyngitis, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin... ORPHA:36234
Whipple Disease
Myositis, Pericarditis, Myocarditis, Hydrocephalus, Uveitis, Respiratory insufficiency, Arthritis... ORPHA:3452
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Hyd... OMIM:613686
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... OMIM:619517
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase ORPHA:681
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Immunodeficiency 13
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasi... OMIM:615518
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Micropenis, Scolio... OMIM:619951
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Cryptorchidism, Respiratory failure, Lateral ventricle dilatation, Micropenis OMIM:619847
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Apnea, Hyd... ORPHA:220493
Rabin-Pappas Syndrome
Hypoventilation, Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Chiar... OMIM:620155
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Tenorio Syndrome
Wide nose, Apnea, Anteverted nares, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicc... OMIM:616260
Hypohidrotic Ectodermal Dysplasia
Frontal bossing, Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Keratoconjunctiv... ORPHA:238468
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl... OMIM:616897
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Cranial asymmetry, Broad nasal tip ORPHA:137634
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia, Recurrent pneumonia, B... OMIM:618282
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Keutel Syndrome
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otit... ORPHA:85202
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosyn... ORPHA:1064
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten... OMIM:601005
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Apnea, Episodic tachypnea, Promine... ORPHA:475
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Ventriculomegaly OMIM:615630
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Cog5-Cdg
Cerebellar atrophy, Short stature, Prominent nose, Cryptorchidism, Wide nasal bridge, Lateral ven... ORPHA:263487
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Fg Syndrome Type 1
Hypospadias, Choanal atresia, Craniosynostosis, Micrognathia, Prominent nose, Cryptorchidism, Hyd... ORPHA:93932
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:404440
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Crani... OMIM:605627
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Skin rash, Myocarditis, As... ORPHA:183
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Granulomatosis With Polyangiitis
Subglottic stenosis, Episcleritis, Sinusitis, Keratitis, Respiratory insufficiency, Uveitis, Conc... OMIM:608710
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aque... OMIM:619895
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Dworschak-Punetha Neurodevelopmental Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Depressed nasal bridge, Colpocephaly OMIM:619955
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatati... ORPHA:565624
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Cer... OMIM:617397
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Brac... OMIM:604757
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology ORPHA:3121
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares, Hydrocephalus, Growth delay, Lateral ventricle dilatation... OMIM:612863
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Apnea, Inspiratory stridor OMIM:600721
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis OMIM:613493
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... ORPHA:727
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia ORPHA:3344
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Growth delay, Inflammation of the large intestine, Intrauterin... OMIM:614576
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum,... ORPHA:60040
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Alg2-Cdg
Lateral ventricle dilatation, Wide nasal bridge ORPHA:79326
Pettigrew Syndrome
Mandibular prognathia, Thickened calvaria, Ventriculomegaly, Prominent nose, Aqueductal stenosis,... OMIM:304340
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Whim Syndrome
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu... ORPHA:51636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Ventriculomegaly, Cerebellar cyst OMIM:616538
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Respirator... ORPHA:1865
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Apnea, Prominent nasal bridge, Hyd... ORPHA:2318
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Achondroplasia
Anteverted nares, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short statu... ORPHA:15
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Premature pubarche, Small scrotum, External genital hypoplasia, Precocious ... ORPHA:398069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... OMIM:606612
Cole-Carpenter Syndrome
Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Abnormal d... ORPHA:2050
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:248700
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556037
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Multiple Sulfatase Deficiency
Cerebellar atrophy, Anteverted nares, Short stature, Hydrocephalus, Increased CSF protein concent... OMIM:272200
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... ORPHA:324737
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98855
Holoprosencephaly 7
Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosence... OMIM:610828
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase conce... ORPHA:99826
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker m... OMIM:613001
Harrod Syndrome
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism ORPHA:2115
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Prominent nasal bridg... OMIM:614424
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Spina bifida, Bul... OMIM:613776
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:2789
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:261
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98853
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... ORPHA:171876
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Thanatophoric Dysplasia, Type I
Frontal bossing, Neonatal respiratory distress, Cloverleaf skull, Hydrocephalus, Midface retrusion OMIM:187600
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Poikiloderma With Neutropenia
Frontal bossing, Depressed nasal bridge, Skin rash, Micrognathia, Underdeveloped nasal alae, Cari... OMIM:604173
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Prominent nose, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis o... OMIM:619244
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C... ORPHA:217390
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Rhizomelia, Short stature, Hypospadias, Antever... OMIM:611209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Lateral Meningocele Syndrome
Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Dolichocephaly, Platybasia, Malar flatt... OMIM:130720
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Cerebellar hypoplasia, Holoprose... OMIM:264480
Fusariosis
Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ... ORPHA:228119
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse ORPHA:137834
Rhizomelic Syndrome, Urbach Type
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Pneumonia, Skin rash, Disproportionate shor... ORPHA:1855
Peho Syndrome
Anteverted nares, Hydrocephalus, Biparietal narrowing, Malar flattening, Short nose, Midface retr... ORPHA:2836
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556030
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral ... ORPHA:354
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Prominent nose, Cryptorchidism, Abnormality of the nose, Hydrocephalus... ORPHA:2378
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Sco... OMIM:248800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Bulbous nose, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia,... OMIM:618476
East Syndrome
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Abnormality of the se... OMIM:616113
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Hydrocephalus, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Brachycephaly, Malar flattening, Midface ... OMIM:612582
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Thanatophoric Dysplasia Type 1
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respiratory insufficien... ORPHA:1860
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Coronal hypo... OMIM:619859
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Helix Syndrome
Hypokalemia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Noncommunicating h... OMIM:619320
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Narrow nasal ridge, Bulbous nose, Hydrocephalus, Malar flattening, Midface retru... OMIM:612940
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
1Q44 Microdeletion Syndrome
Frontal bossing, Micrognathia, Hydrocephalus, Biparietal narrowing, Ventriculomegaly ORPHA:238769
Trisomy 17P
Hypoplasia of penis, Wide nose, Short stature, Prominent nose, Hydrocephalus, Growth delay, Intra... ORPHA:261290
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Asthma, Recurrent pneumonia, Hydrocephalus, Recurrent otitis... OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel... OMIM:613150
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... OMIM:227810
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck OMIM:613320
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum... ORPHA:3301
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephal... OMIM:617866
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... ORPHA:261250
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Plagiocephaly, Malar fl... OMIM:239300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... OMIM:301040
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment... ORPHA:96169
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Laryngeal hypoplasia, Brachycephaly, Maxillozygomatic hypopla... ORPHA:1790
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Cdags Syndrome
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Rectov... OMIM:603116
Noonan Syndrome 14
Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Meningoencephalocele, C... OMIM:236670
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... ORPHA:314588
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:616355
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Long nose, Bulbous nose, Partial agenesis of the cor... OMIM:620113
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... ORPHA:199299
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Re... OMIM:219800
Desmosterolosis
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Growth dela... ORPHA:35107
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Hypophosphatemia, Ane... ORPHA:534
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, Asthma, Lateral ventricle dil... ORPHA:544488
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Respiratory insufficiency, Cerebellar hypoplasia, Holoprosencephaly... OMIM:253800
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Choanal stenosis, Aspiration pneumonia, Recurrent aspiration pne... OMIM:602535
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Dandy-Wa... OMIM:617281
Micro Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco... ORPHA:2510
Igg4-Related Pachymeningitis
Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea,... ORPHA:449427
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Raine Syndrome
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Hydroc... OMIM:259775
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Desmosterolosis
Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Hydrocephalus, Ambiguo... OMIM:602398
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, Short nose, Midface retrusion, Bicoro... ORPHA:93258
Achard Syndrome
Broad skull, Brachycephaly, Micrognathia OMIM:100700
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Weiss-Kruszka Syndrome
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent nose, Abnormal preputium morphology, Bulbous nose, Choroid plexus cyst, Glandular hypos... ORPHA:293725
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Increased circulating co... OMIM:219080
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Kyphosis, Scoliosis ORPHA:464282
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Abnormality of the ... OMIM:209900
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Osteomyelitis, Craniosynostosis, Carious teeth, Hydrocephalus, Calvarial osteosc... OMIM:259700
Monosomy 18Q
Short stature, Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Bulbous nose, Hy... ORPHA:1600
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature, Hepatitis ORPHA:381
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Halperin-Birk Syndrome
Aspiration, Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Ventricul... OMIM:618651
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Depressed nasal bridge, Wide nasal bridge, Lateral ve... OMIM:619479
Good Syndrome
Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough ORPHA:169105
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Spinal rigidity, Cardiomegaly, Hyperlordosis,... ORPHA:268
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum,... OMIM:618820
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Hypospadias, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydroceph... ORPHA:163979
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:2169
Keutel Syndrome
Sinusitis, Depressed nasal bridge, Cartilaginous ossification of nose, Cartilaginous ossification... OMIM:245150
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the pon... OMIM:620305
Nijmegen Breakage Syndrome
Sinusitis, Premature ovarian insufficiency, Choanal atresia, Micrognathia, Long nose, Malar promi... OMIM:251260
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Jacobsen Syndrome
Flat occiput, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism... OMIM:147791
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature ORPHA:208447
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly OMIM:618143
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Hydrocephalu... OMIM:618590
Chronic Granulomatous Disease
Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye ORPHA:379
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Micropenis, Scoliosis, Cryptorchidism ORPHA:364028
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Bulbous nose, Hydrocephalus, Wide nasal bridge, Intrauterine growt... ORPHA:250989
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... OMIM:610600
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Achondroplasia
Respiratory distress, Frontal bossing, Depressed nasal bridge, Hydrocephalus, Upper airway obstru... OMIM:100800
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Prec... OMIM:615485
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch... OMIM:615512
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Fanconi Anemia, Complementation Group I
Short stature, Colpocephaly, Chiari malformation, Intrauterine growth retardation, Agenesis of co... OMIM:609053
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Hydrocephalus, Cough, Pleur... ORPHA:1546
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect OMIM:617602
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Micrognathia, Hydrocephalus, Malar flattening, Midface retrusion OMIM:224400
Fanconi Anemia, Complementation Group R
Growth delay, Chiari type I malformation, Hydrocephalus OMIM:617244
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic steatosis, Kyphos... ORPHA:14
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cry... OMIM:182212
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Enlarged to... OMIM:607014
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Hypomagnesemia, Hypermagnesemi... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Narrow nasal ridge, Hypoplasia of the pons, Cryptorchidism, Bulbous nose, Aqueductal stenosis, Pa... OMIM:619512
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Frontal bossing, Communicating hydrocephalus, Anteverted nares, Depressed n... OMIM:618188
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Disproportionate short-trunk short stature OMIM:613330
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism, Scoliosis OMIM:170390
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Increased c... ORPHA:231625
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Bulbous nose, Lateral ventricle dilatation, Short nose OMIM:614105
Czeizel-Losonci Syndrome
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Thin calvarium, Spina bifida occulta ORPHA:2437
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Sandhoff Disease
Hepatomegaly, Impotence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Craniosynostosis, Hydr... OMIM:616914
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, ... OMIM:610829
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Absent nares, Cer... ORPHA:2166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Hydrocephalus, Ventriculomegaly OMIM:603387
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Aymé-Gripp Syndrome
Pericarditis, Short stature, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism... ORPHA:1272
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Abnormality of th... ORPHA:900
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Apnea, Prominent nasal b... ORPHA:1454
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Short stature, Hydrocephalus, Chiari type I malformation, Lateral ventric... OMIM:619575
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... ORPHA:722
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly ORPHA:391428
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Sinusitis, Pneumonia, Otitis media OMIM:613179
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Slc35A2-Cdg
Cerebellar atrophy, Short stature, Precocious puberty, Lateral ventricle dilatation, Intrauterine... ORPHA:356961
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Retrognathia, Bifid uterus ORPHA:2736
7Q11.23 Microduplication Syndrome
Hypospadias, Craniosynostosis, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Dent... ORPHA:96121
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Asthma, Recurrent pneumonia, Bronchiectasis, ... OMIM:243700
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Broad nasal tip, Prominent nose, Oligozoospermia, Clitoral hypoplasia, Low... OMIM:614813
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Cho... OMIM:309801
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... OMIM:614921
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Apnea, Anteverted nares, Craniosynostosis, Microgna... ORPHA:2462
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Turricephaly, Craniosynostosis, Micrognathia, Hydroceph... ORPHA:314585
Dubowitz Syndrome
Short stature, Hypospadias, Abnormality of female external genitalia, Eczema, Postnatal growth re... ORPHA:235
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:85293
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia, Anemia ORPHA:97362
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Micrognathia OMIM:243440
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Basal Cell Nevus Syndrome 2
Frontal bossing, Hydrocephalus OMIM:620343
Wiskott-Aldrich Syndrome
Sinusitis, Epistaxis, Eczema, Abnormality of the menstrual cycle, Keratitis, Dyspnea, Chronic pul... ORPHA:906
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepa... OMIM:212065
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Lateral ventricle dilatation OMIM:617854
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper... OMIM:616449
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... OMIM:620306
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus... ORPHA:2839
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Respiratory insufficiency, Colpocephaly, Agenesis of corpus callosum, Ventriculome... OMIM:617260
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... OMIM:616894
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Postnatal growth retardation, Partial agenesis of the corpus callos... ORPHA:300570
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hydrocephalus, Tubulointerstitial ne... ORPHA:157
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choa... ORPHA:2162
Aicardi Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Postnatal growth retardation, Preco... OMIM:304050
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... ORPHA:171436
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Convex nasal ridge, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth re... OMIM:619321
Ataxia-Telangiectasia
Abnormal spermatogenesis, Sinusitis, Female hypogonadism, Bronchiectasis OMIM:208900
Neonatal Lupus Erythematosus
Skin rash, Hydrocephalus, Malar rash, Maculopapular exanthema ORPHA:398124
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus ORPHA:2184
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... OMIM:610443
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Craniopharyngioma
Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Proportionate short stature, Postn... ORPHA:54595
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Increased serum... OMIM:252500
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Stromme Syndrome
Cerebellar vermis hypoplasia, Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short col... OMIM:243605
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Hypospadias, Micrognathia, Myelomeningocele, Hypoplastic f... ORPHA:90652
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Anteverted nares, Narrow nasal tip, Cryptorchidism, Wide nasal bridge, Colpocephaly,... ORPHA:477993
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect OMIM:619909
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Vacterl With Hydrocephalus
Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopia... ORPHA:3412
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Ovarian neoplasm ORPHA:65285
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Mandibular prognathia, Hypospadias, External genital hypoplasia, Abnor... ORPHA:2658
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Amoebiasis Due To Free-Living Amoebae
Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog... ORPHA:68
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Wide nasal bridge, La... ORPHA:572798
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly ORPHA:420179
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Neutropenia, Mitral valve prolapse, Scoliosi... ORPHA:193
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Chiari type I malformation... OMIM:270400
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Distal Deletion 10Q
Short stature, Prominent nasal bridge, Prominent nose, Postnatal growth retardation, Wide nasal b... ORPHA:96148
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Postnatal growth retardation, Cryptorch... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Postnatal growth retardation, Cryptorch... ORPHA:363958
Congenital Myopathy 22A, Classic
Frontal bossing, Micrognathia, Scaphocephaly, Wide nasal bridge, Respiratory insufficiency, Norma... OMIM:620351
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Calvarial skull defect, Laryngeal atresi... OMIM:219000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Frontal bossing, Anteverted nares, Repeated pneumothoraces, Craniosynostosi... ORPHA:536467
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Short stature, Hypospadias, Narrow nasal ridge, Cryptorchidism, Col... OMIM:620083
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Micropenis... OMIM:619005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... OMIM:102700
Gracile Bone Dysplasia
Micropenis, Short stature, Hydrocephalus OMIM:602361
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Hypertriglyceridemia, Kyphoscoliosis, Peric... ORPHA:536532
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Multiple Sulfatase Deficiency
Anteverted nares, Short stature, Hydrocephalus, Depressed nasal bridge ORPHA:585
Mercury Poisoning
Hypokalemia ORPHA:330021
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Scol... ORPHA:2215
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia OMIM:612780
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Short stature ORPHA:2720
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Opitz-Kaveggia Syndrome
Frontal bossing, Hypospadias, Choanal atresia, Micrognathia, Prominent nose, Cryptorchidism, Hydr... OMIM:305450
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Short stature ORPHA:1834
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Rectovaginal fistula, Intrauterine g... ORPHA:1780
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Hydroceph... OMIM:616007
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity OMIM:254090
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurrent pneumonia, Bronchiectasis, Uve... OMIM:614700
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Chronic otitis med... OMIM:614188
Fanconi Anemia, Complementation Group L
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Growth delay, Cerebellar hypoplasia, Aplas... OMIM:614083
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:608013
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Wide nose, Hypospadias, Abnormal dental enamel m... ORPHA:2556
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Mend Syndrome
Microretrognathia, Prominent nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Hydrocepha... OMIM:300960
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Megaloblastic anemia OMIM:300322
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... ORPHA:251014
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati... OMIM:162300
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Olivopontocerebellar hypoplasia, Hydrocephalus, Aplasia of the vagina, Aplasia ... ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebell... OMIM:614643
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol... ORPHA:401973
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... OMIM:607364
Cardiofaciocutaneous Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Hypopla... ORPHA:1340
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Anencephaly, Occipital menin... OMIM:616546
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... ORPHA:79329
Kabuki Syndrome 1
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... OMIM:147920
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Hyperuricemia ORPHA:261222
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:617061
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Osteopathia Striata With Cranial Sclerosis
Frontal bossing, Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Micrognathia, Hyd... OMIM:300373
Tetrasomy 9P
Myositis, Pericarditis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, Bulbous ... ORPHA:3310
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... OMIM:245600
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Anoperineal fistula, Recurrent sinusitis, Perioral eczema OMIM:613960
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis OMIM:617190
Alexander Disease
Precocious puberty, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Agenesis of co... ORPHA:58
Fraser Syndrome 3
Wide nose, Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Convex nasal ridge OMIM:617667
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Hypospadias, Cryptorchidism, Cerebellar vermis atrophy, Colpocephaly, Cerebel... OMIM:614866
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Prominent nasal bridge, Micrognathia, Laryngeal hypoplasia, Trismus, Aqueduc... OMIM:154400
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis OMIM:618443
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum atrial septal defect... OMIM:300855
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Delayed puberty OMIM:263800
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral col... ORPHA:1328
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Hyd... OMIM:258040
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Single naris, Respiratory failure, Chroni... OMIM:615636
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Cystic Fibrosis
Sinusitis, Absent vas deferens, Nasal polyposis, Reduced forced expiratory volume in one second, ... ORPHA:586
Mucopolysaccharidosis, Type Vi
Short stature, Pneumonia, Depressed nasal bridge, Hydrocephalus, Recurrent upper respiratory trac... OMIM:253200
Mohr Syndrome
Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, Bifid nasal tip... OMIM:252100
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Lymphocytic interstitial pneumonia, Osteomyelitis, Pe... ORPHA:2968
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Adams-Oliver Syndrome
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus, Calvarial skull defect ORPHA:974
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Keratitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros... ORPHA:449563
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Growth d... ORPHA:2461
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:1507
Fanconi Anemia
Frontal bossing, Hypospadias, Choanal atresia, Spina bifida, Abnormal preputium morphology, Micro... ORPHA:84
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal form of th... ORPHA:581
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae... ORPHA:2911
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... ORPHA:744
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicula... ORPHA:3063
22Q11.2 Deletion Syndrome
Micrognathia, Abnormality of the uterus, Chronic otitis media, Hypospadias, Acne, Abnormal dental... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nose, Cr... OMIM:210710
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Anteverted nares, Hypospadias, Recurrent pneumonia, Lateral ventricle dilata... ORPHA:464738
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Lateral ventricle dilatation, Dysplastic corpus callosum, Ventricul... ORPHA:488627
Fontaine Progeroid Syndrome
Mandibular prognathia, Turricephaly, Small scrotum, Depressed nasal bridge, Convex nasal ridge, C... OMIM:612289
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilata... ORPHA:1692
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia,... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:261349
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Arachnoiditis
Hydrocephalus ORPHA:137817
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... ORPHA:293978
Weaver Syndrome
Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Cerebella... OMIM:277590
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, C... ORPHA:2356
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abnormalit... ORPHA:280
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Polycystic ovaries, Cough, Cerebellar malformation, Agenesis of corpus ... ORPHA:137675
Cousin Syndrome
Frontal bossing, Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, m... OMIM:260660
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... ORPHA:95409
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... ORPHA:275761
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Cerebral Visual Impairment
Hydrocephalus, Infectious encephalitis ORPHA:447788
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Micrognathia, Absent frontal sinuses, Hydrocephalus, Wi... ORPHA:955
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Ambiguous genitalia, In... OMIM:269860
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... ORPHA:264450
Knobloch Syndrome
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Midface retrusion, Calvarial skul... ORPHA:1571
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... OMIM:265000
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Frontal bossing, Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal ... OMIM:109400
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Myocarditis, Hypokalemia, Incr... ORPHA:466677
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Lateral ventricle dilatation, Intrauterine growth r... OMIM:619487
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Frontal bossing, Wide nose, Micrognathia, Cryptorchidism, Bulbous nose, Hy... ORPHA:261337
Campomelic Dysplasia
Respiratory distress, Frontal bossing, Neonatal respiratory distress, Apnea, Hypospadias, Depress... OMIM:114290
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Narrow nasal bridge, Short stature, External genital hypoplasia, Hypogonado... ORPHA:177907
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... OMIM:208400
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Respiratory failure, Ventriculomegaly OMIM:259720
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:192
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation, Pulmonary embolism ORPHA:3205
Alobar Holoprosencephaly
Central apnea, Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Grow... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Grow... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Grow... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Grow... ORPHA:220386
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus ORPHA:97339
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Short stature ORPHA:2268
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Hydrocephalus, Dental maloc... OMIM:115150
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis, Cryptorchidism, ... ORPHA:464306
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Apnea, Ventriculomegaly ORPHA:395
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Hydrocephalus, Trigonocephaly, Short nose, Ventriculo... ORPHA:77301
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Cockayne Syndrome A
Cerebellar atrophy, Slender nose, Short stature, Prominent nose, Cryptorchidism, Irregular menstr... OMIM:216400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Complete atrioventricular canal defect, Hypercalcemia, Scoliosis ORPHA:476126
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia... ORPHA:51
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Has... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Has... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Has... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Short neck, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis, Has... ORPHA:881
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Broad nasal tip, Lateral ventricle dilatation, Cryptorchidism OMIM:617557
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphyse... ORPHA:538
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, D... ORPHA:564
Orofaciodigital Syndrome I
Microretrognathia, Frontal bossing, Underdeveloped nasal alae, Carious teeth, Supernumerary tooth... OMIM:311200
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, H... OMIM:102500
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Micropenis, Agenesi... OMIM:227646
Birk-Landau-Perez Syndrome
Camptocormia, Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Hypospadias, Epistaxis,... OMIM:619841
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation ORPHA:2148
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Bifid nose ORPHA:268249
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Hydrocephalus, Short stature ORPHA:220295
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Con... OMIM:300755
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Anteverted nares ORPHA:2306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Kyphosis, C... ORPHA:1606
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Carious teeth ORPHA:811
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... ORPHA:2322
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Short stature, Hypospadias, Pneumonia, Postnatal growth re... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Short stature, Hypospadias, Pneumonia, Postnatal growth re... ORPHA:353277
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Short stature, Colpocephaly, Intrauterine growth retardation, Short... OMIM:618460
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... ORPHA:116
Baller-Gerold Syndrome
Turricephaly, Prominent nasal bridge, Sagittal craniosynostosis, Craniosynostosis, Underdeveloped... OMIM:218600
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... ORPHA:89938
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Hepatosplenomegaly, Cardiomyopathy, Abn... ORPHA:576
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Communicating hydrocephalus, Depressed nasal bridge, Pneumonia, Craniosyno... ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Growth delay, Azoospermia, Bacterial endocarditi... ORPHA:2072
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypothyroidism, Hypercholesterolemia, Scoliosis ORPHA:2479
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Yunis-Varon Syndrome
Narrow nasal base, Short stature, Hypospadias, Anteverted nares, Postnatal growth retardation, Cr... ORPHA:3472
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Laryngeal atresia OMIM:314390
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Underdeveloped nasal alae, Recurrent pneumonia, Upper airway obstruction, Re... OMIM:614098
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... ORPHA:449395
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis ORPHA:1969
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Pseudoaminopterin Syndrome
Frontal bossing, Prominent nasal bridge, Sagittal craniosynostosis, Micrognathia, Cryptorchidism,... ORPHA:221120
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Meningioma
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Abnormal cerebellum mor... ORPHA:2495
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Sc... ORPHA:365
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... ORPHA:800
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Growth delay, Pulmonary arterial hyperte... ORPHA:79282
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Medulloblastoma
Hydrocephalus, Cerebellar calcifications, Cerebellar cyst ORPHA:616
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Stridor, Conjunctivitis, Pulmonary arterial hypertension, Sh... ORPHA:505248
Costello Syndrome
Short stature, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Pneumothorax, Respiratory... OMIM:218040
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Abnormality of dental color, Cranial asymmetry OMIM:163200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypospadias, Pneumonia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, ... OMIM:264090
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Cr... ORPHA:818
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hyperactive renin-angiotensin ... OMIM:241200
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Rectovaginal fistula OMIM:619708
Wolf-Hirschhorn Syndrome
Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... OMIM:194190
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Cockayne Syndrome B
Slender nose, Severe short stature, Cerebellar calcifications, Prominent nasal bridge, Postnatal ... OMIM:133540
Microphthalmia With Limb Anomalies
Frontal bossing, Depressed nasal bridge, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia o... ORPHA:1106
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Increased circulating renin level, Decreased c... ORPHA:427
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Absent external genitalia, Hydro... OMIM:273395
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Peters Plus Syndrome
Rhizomelia, Short stature, Hypospadias, Anteverted nares, Postnatal growth retardation, Cryptorch... ORPHA:709
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge OMIM:104350
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus ORPHA:168577
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Depressed nasal tip, Cerebellar hypoplasia, Intrauterine growth re... OMIM:208150
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Anteverted nares, Depressed nasal bridge, Seborrheic dermatitis, Abnormal pons morphology, Respir... OMIM:300868
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Hydrocephalus, Abnormality of the sphenoid sinus, Abnormal dental pulp m... ORPHA:363700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Frontal bossing, Communicating hydrocephalus, Prominent nasal bridge, Mala... OMIM:617011
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Coffin-Siris Syndrome 12
Short stature, Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Cry... OMIM:619325
Gaucher Disease
Osteomyelitis, Short stature, Osteoarthritis, Hydrocephalus, Hepatitis, Respiratory insufficiency... ORPHA:355
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Subvalvular aortic stenosis ORPHA:47159
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Ventriculomegaly, Osteomyelitis, Hypospadias, Anteverted nares, Bulbous nose, Hydr... OMIM:619475
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Hyperkalemia, Hypoc... ORPHA:544482
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Epistaxis ORPHA:137667
Osteogenesis Imperfecta
Delayed eruption of teeth, Neonatal respiratory distress, Abnormality of dental color, Abnormal d... ORPHA:666
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature OMIM:227650
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Focal Dermal Hypoplasia
Narrow nasal bridge, Cleft ala nasi, Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalu... OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Recurrent skin infections, Wide nasal ... ORPHA:3455
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... OMIM:309000
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media OMIM:601495
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, H... ORPHA:286
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Otopalatodigital Syndrome, Type Ii
Short stature, Hypospadias, Depressed nasal bridge, Spina bifida, Postnatal growth retardation, C... OMIM:304120
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Lateral ventricle dilatati... OMIM:619869
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Short nasal bridge, Ventriculomegaly,... OMIM:253280
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Colpocephaly, Aplasia of the nose, Agenesis of corpus callosum, Semilob... OMIM:301043
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Midline defect of the nose, Bifid nose, Severe hydrocepha... OMIM:236680
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Genitopatellar Syndrome
Wide nose, Small scrotum, Enlarged labia minora, Prominent nasal bridge, Prominent nose, Cryptorc... OMIM:606170
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Short stature, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Lateral vent... OMIM:615873
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Chromosome 1P36 Deletion Syndrome, Distal
Frontal bossing, Abnormal external genitalia, Hypospadias, Depressed nasal bridge, Cryptorchidism... OMIM:607872
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Neurofibromatosis Type 1
Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chronic myelog... ORPHA:636
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Cr... OMIM:268300
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Prominent nasal bridge, Cerebellar hypoplasia, Micropenis, Ventricul... ORPHA:457359
Peters-Plus Syndrome
Hypoplasia of the vagina, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, ... OMIM:261540
Ramon Syndrome
Kyphosis, Enlarged labia minora, Scoliosis OMIM:266270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:263520
Cockayne Syndrome
Hepatomegaly, Diabetes mellitus, Splenomegaly, Kyphosis, Cryptorchidism, Absence of pubertal deve... ORPHA:191
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Short stature OMIM:618367
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Kyphosis, Cardiomyopathy, Scoliosis ORPHA:90324
Hemorrhagic Fever-Renal Syndrome
Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp... ORPHA:340
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Wide nose, Short stature, Recurrent upper respiratory tract infectio... ORPHA:580
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Communicating hydrocephalus OMIM:616084
6Q Terminal Deletion Syndrome
Colpocephaly, Hypospadias, Cerebellar hypoplasia, Phimosis ORPHA:75857
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... OMIM:617140
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hydrocephalus, Myelomeningo... ORPHA:2369
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Lateral ventricle dilatation, Cerebellar hypoplasia, Intrauterine growth retar... OMIM:300896
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognathia, Hydrocephalus, Malar ... OMIM:609192
Coffin-Siris Syndrome 1
Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal... OMIM:135900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Full Nf2-Related Schwannomatosis
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus ORPHA:637
Noonan Syndrome 1
Male infertility, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Synov... OMIM:163950
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism OMIM:617527
Classic Homocystinuria
Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Sotos Syndrome
Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Hypercalcemia, Phimosis, Cryptor... ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Depressed nasal bridge, Proportionate short stature, Dysplastic corpus callosum... ORPHA:500150
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormal heart morphology, Hypertrophic cardi... ORPHA:97685
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Depre... OMIM:312870
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... ORPHA:51608
Scalp-Ear-Nipple Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Pyelonephritis, Lateral ventricle dilata... OMIM:181270
Wrinkly Skin Syndrome
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation OMIM:278250
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... ORPHA:573278
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Cerebrocostomandibular Syndrome
Kyphosis, Ventricular septal defect ORPHA:1393
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Choanal atresia, Bifid uterus, Cryptorchidism,... OMIM:107480
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Chiari type I malformation, Webbed penis, Micropenis... ORPHA:261537
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognat... OMIM:610168
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Marfan Syndrome
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Spondylolisthesis ORPHA:558
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis ORPHA:198
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Asthma, Hydrocephal... OMIM:619534
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... ORPHA:828
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Chiari type I malformation, Webbed penis, Micropenis... ORPHA:261552
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050
Coffin-Lowry Syndrome
Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Ectopic t... OMIM:113620
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... OMIM:182250
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypereosin... OMIM:619472
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ... OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum OMIM:164210

Histopathology

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

There is no histopathology data for Ak7

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 Ak7.

No publications found that use IMPC mice or data for Ak7.

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MGI Allele Allele Type Produced
Ak7em1(IMPC)Ccpcz Exon Deletion Mice

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