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Gene: Pcm1 MGI:1277958

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Gene Summary

Name:
pericentriolar material 1
Synonyms:
2600002H09Rik,  C030044G17Rik,  9430077F19Rik

Order Alleles

IMPC Data Collections

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
decreased prepulse inhibition Pcm1em1(IMPC)Tcp HOM Early adult 2.27×10-06
decreased spleen weight Pcm1em1(IMPC)Tcp HOM   Early adult 7.10×10-05
decreased body length Pcm1em1(IMPC)Tcp HOM Early adult 1.70×10-18
decreased lean body mass Pcm1em1(IMPC)Tcp HOM Early adult 4.97×10-05
small spleen Pcm1em1(IMPC)Tcp HOM Early adult 0.00
prolonged QRS complex duration Pcm1em1(IMPC)Tcp HOM   Early adult 1.86×10-06
hydrocephaly Pcm1em1(IMPC)Tcp HOM Early adult 0.00
abnormal cranium morphology Pcm1em1(IMPC)Tcp HOM Early adult 5.32×10-07
increased startle reflex Pcm1em1(IMPC)Tcp HOM Early adult 6.09×10-08
abnormal coat/hair pigmentation Pcm1em1(IMPC)Tcp HOM Early adult 4.85×10-05
impaired glucose tolerance Pcm1em1(IMPC)Tcp HOM Early adult 4.56×10-06
male infertility Pcm1em1(IMPC)Tcp HOM Early adult 0.00
prolonged RR interval Pcm1em1(IMPC)Tcp HOM Early adult 9.08×10-05
abnormal skin morphology Pcm1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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Histopathology

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Pcm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... ORPHA:1008
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
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
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Thrombocytopenia OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Edinburgh Malformation Syndrome
Frontal hirsutism, Failure to thrive, Hydrocephalus, Jaundice OMIM:129850
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Fatigable weakness of skeletal muscles, Dilated cardiomyopathy, Right bundle branch block, Left v... ORPHA:206559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
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
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 17
Male infertility OMIM:617214
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin, Abnormal te... ORPHA:100
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
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Naxos Disease
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Prolonged QRS complex, Su... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydrocep... OMIM:269920
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
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... OMIM:610333
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... ORPHA:563
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
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
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia OMIM:619302
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Long eyebrows, Atrioventricular block, Glucose intolerance, Bradycard... OMIM:614407
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Hydrocephalus, Obesity, L... ORPHA:2183
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... ORPHA:398124
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hydrocephalus, Small nail OMIM:619470
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:250994
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Premature graying of hair, Hypop... ORPHA:33445
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy... ORPHA:858
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
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
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Myotonic Dystrophy 2
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... OMIM:602668
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Toenail dysplasia ORPHA:1532
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failur... OMIM:235200
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Fai... OMIM:618235
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Lat... OMIM:609637
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Congestive heart failure, Bradycardia, Failure to thrive, Hepatic ste... OMIM:619048
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... ORPHA:71526
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Obesity, Cholestasis, Gluc... OMIM:615630
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Abnormality of the liv... OMIM:610131
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Increased CSF lactate, Bradycardia, Dystonia OMIM:616277
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction ORPHA:171445
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Congestive heart failure, Increased CSF lactate, ... ORPHA:70472
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... OMIM:115197
Temple Syndrome
Few cafe-au-lait spots, Small for gestational age, Cryptorchidism, Hydrocephalus, Obesity, Recurr... ORPHA:254516
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... ORPHA:90065
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Hydrocep... ORPHA:2701
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Obesity, Decreased body weight, Ventric... ORPHA:589821
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
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine concent... OMIM:616034
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... ORPHA:137675
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep... ORPHA:163596
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Hepatomegaly, Right ventricula... ORPHA:1329
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
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, Anemia,... OMIM:184850
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypoglycemia, Thrombocytopenia, Cryptorchidism, Hydrocephalus, In... OMIM:617053
Intellectual Developmental Disorder, Autosomal Recessive 68
Synophrys, Small for gestational age, Hydrocephalus, Broad eyebrow OMIM:618302
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, Dystonia OMIM:616299
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Myocardia... ORPHA:3452
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size ORPHA:649929
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prem... OMIM:212138
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Fried Syndrome
Hydrocephalus ORPHA:85335
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Tremor, Con... ORPHA:466677
Kleeblattschaedel
Hydrocephalus OMIM:148800
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hirsutism, Hyperglycemia, Ventriculomegaly OMIM:175700
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Failure to thrive, Generalize... ORPHA:1895
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... ORPHA:894
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Hypoglycemia, D... ORPHA:79239
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Fail... OMIM:614702
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Hydr... OMIM:616222
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I... ORPHA:177910
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Lymphadenopathy, G... ORPHA:2221
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
H Syndrome
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Diabetes mellitus, Microcytic anemia, Hydro... ORPHA:168569
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Melanocytic nevu... ORPHA:500
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Cln3 Disease
Vacuolated lymphocytes, Pigmentary retinopathy, T-wave inversion, Bradycardia, Hirsutism ORPHA:228346
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... OMIM:614072
Coach Syndrome 2
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis OMIM:619111
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Postural tremor, Hand tremor ORPHA:99947
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Long eyelashes, Ventriculomegaly OMIM:618577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Insulin resi... OMIM:613327
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair OMIM:614613
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Failure to thrive, Tricuspid regurgitation, Slow-growing hair, Highly arched eyebrow,... OMIM:617506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Diabetes mellitus, Cardiomyopathy, Hypogonadism, Bradycardia, Ar... OMIM:609286
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Hydrocephalus, Ventriculomegaly OMIM:602501
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Cryptorchidism, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Fai... OMIM:609757
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Portal hypertension, Congenital hepatic fib... ORPHA:974
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hypermelanotic macule, Hydrocephalus, Cerebral ischemia, Arrhythmia, ... ORPHA:60040
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hydrocephalus OMIM:602361
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... ORPHA:99827
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... ORPHA:93672
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... OMIM:261740
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Hydrocephalus, Hepatosplenomegaly, Telangiectasia, Generalized hypert... ORPHA:93400
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Nephronophthisis 18
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... ORPHA:699
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Tenorio Syndrome
Thick eyebrow, Hypoglycemia, Raynaud phenomenon, Hydrocephalus, Syncope, Hypoinsulinemia, Ventric... OMIM:616260
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Cholestasis, Cirrhosis... OMIM:614576
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Mitochondrial Complex I Deficiency, Nuclear Type 37
Increased CSF lactate, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Failure to thr... OMIM:619272
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus, Hypertrichosis OMIM:618590
Alexander Disease Type I
Hydrocephalus, Failure to thrive, Cachexia ORPHA:363717
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hydrocephalus, Hypertension, Abnormality of the liver, Increased... ORPHA:2169
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Insulin resistance, Pulmonary insufficiency, Intention tremor OMIM:619322
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hypoplastic ... OMIM:185070
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hyperte... OMIM:614008
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Generalized hyperpigmentation... ORPHA:3322
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia OMIM:614654
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropeni... ORPHA:391673
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Small nail OMIM:614219
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus, Obesity ORPHA:171839
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia OMIM:610015
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... OMIM:249400
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Hydrocephalus, Polysplenia, Abnormal sperm motili... ORPHA:244
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Hypoglycemia, Supernumerary nipple, Spl... ORPHA:373
Dextrocardia
Abnormal EKG, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal situs, T-wave in... ORPHA:1666
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia, Opisthotonus OMIM:619814
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Optic Pathway Glioma
Fatigable weakness, Hydrocephalus ORPHA:2086
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Leg dystonia, Increased CSF lactate, Lateral ventricle dilatation, Bradycardia, N... ORPHA:565624
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Thick eyebrow, Hydrocephalus, Colpocephaly, Long eyelashes, Failur... OMIM:619833
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... OMIM:618541
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Coarse hair, Thic... ORPHA:585
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Synophrys, Hydrocephalus, Opisthotonus, Choreoathetosis, Hypopi... OMIM:614969
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Cardiofaciocutaneous Syndrome
Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Failure to thrive in infancy, Abn... ORPHA:1340
Muenke Syndrome
Hydrocephalus, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Occipital encephalocele, Highly arched eyebrow, Portal hypertension, Tremor, Congen... ORPHA:1454
Emanuel Syndrome
Torticollis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve ste... OMIM:609029
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorr... ORPHA:398079
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Congestive heart failure, Splenomegaly, Hydroc... OMIM:309900
Bresek Syndrome
Cryptorchidism, Alopecia, Hydrocephalus, Decreased testicular size ORPHA:85284
Sheehan Syndrome
Dyspareunia, Orthostatic hypotension, Decreased female libido, Hypoglycemia, Sparse axillary hair... ORPHA:91355
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive, Highly arched eyebrow, Retinal telangiectasia OMIM:620157
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker mal... OMIM:220210
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Mottled pigmentation, Bradycardia, Large for gestational age ORPHA:226313
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Failure to thriv... OMIM:610768
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Hogue-Janssen Syndrome 2
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly OMIM:616362
Oculocerebrocutaneous Syndrome
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Cryptorchidism, Hydrocephalus, Hypopi... ORPHA:1647
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to thri... OMIM:612938
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism, Melanocytic nevus ORPHA:377
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Pulmonic stenosis, Ao... ORPHA:96170
Pseudo-Torch Syndrome 2
Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Bradycardia, T... OMIM:617397
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thick hair, Congestive... ORPHA:505248
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Abnormal fingernail morphology, Hydrocephalus, Meningocele, Anencephaly, Spinal dy... ORPHA:1908
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Crouzon Syndrome
Hydrocephalus, Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Hydrocephalus, Low... OMIM:115150
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Leopard Syndrome 1
Bundle branch block, Delayed menarche, Cryptorchidism, Spina bifida occulta, Hypoplasia of the ov... OMIM:151100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Alopecia totalis, Normochromic anemia, B... OMIM:618775
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Hydrocephalus, Obesity ORPHA:2180
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Irregular hyperpigm... ORPHA:2969
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
Tetanus
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia ORPHA:3299
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Houge-Janssens Syndrome 1
Hydrocephalus, Hypoglycemia, Ventriculomegaly OMIM:616355
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... OMIM:607361
Triploidy
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Hydroc... ORPHA:3376
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational... ORPHA:84064
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis... ORPHA:25
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Holoprosencephaly
Encephalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Highly arched eyebr... ORPHA:2162
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenome... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hydrocephalus, White hair, Ocular albinism, Hypochromic anemia, Gener... ORPHA:2720
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Tremor, Aqueductal stenosis, Hydrocephalus, Hypertension... ORPHA:58
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:176270
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 65
Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Thin eyebrow, Sparse hair OMIM:619320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Heart block, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hepa... ORPHA:228308
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt... OMIM:259710
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Aortic valve stenosis, Da... ORPHA:459061
Trisomy 17P
Hydrocephalus, High anterior hairline, Low posterior hairline, Aortic valve stenosis, Generalized... ORPHA:261290
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Abnormali... ORPHA:93473
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Mucopolysaccharidosis Type 3
Hepatomegaly, Ventriculomegaly, Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsi... ORPHA:581
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:90051
Joubert Syndrome 14
Encephalocele, Highly arched eyebrow, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypert... OMIM:614424
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Impotence OMIM:268800
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Eisenmenger Syndrome
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... ORPHA:97214
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy OMIM:207950
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Male infertility, Primary testicular failure, Congesti... ORPHA:85450
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Telangiectasia, Pigmentary retinopathy, Frontal upsweep of hair, Dandy-Walker malf... OMIM:612582
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Squalene Synthase Deficiency
Bilateral cryptorchidism, Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Bradycardia, Opisthotonus OMIM:220120
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele ORPHA:2119
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ... ORPHA:163746
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hy... OMIM:616084
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... OMIM:612863
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Ventriculomegaly, Thick eyebrow, Hydrocephalus, Long eyelashes, Dan... OMIM:617281
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
47,Xyy Syndrome
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Congestive heart failure, Splenomegaly, Hydrocephalus, Low anterior h... ORPHA:579
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... ORPHA:98754
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Abnormality of the hairline, Decreased body weight OMIM:614886
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Anemia ORPHA:53
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Depigmentation/hyperpigmentation of skin, Heart murmur, ... ORPHA:3309
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Coarse hair, Thick eyebrow OMIM:253220
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Myopathy 22A, Classic
Synophrys, Tricuspid regurgitation, Bradycardia, Normal pressure hydrocephalus OMIM:620351
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Cardiomyopathy, Mitral regurg... OMIM:253200
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... ORPHA:626
Diabetic Embryopathy
Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Cryptorchidism ORPHA:1926
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... ORPHA:98793
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Cryptorchidism, Primary amenorrhea, Hypertension, Ab... ORPHA:739
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, Generalized hypertr... ORPHA:2409
3C Syndrome
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformat... ORPHA:7
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... ORPHA:3440
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... ORPHA:177904
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Monosomy 18Q
Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Hydrocephalus, Low anter... ORPHA:1600
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal ob... ORPHA:398069
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Melanocytic nevus, Hypertension, Abno... ORPHA:1555
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... ORPHA:177901
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Aplastic/hypoplastic toena... ORPHA:1812
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasculitis, P... ORPHA:228123
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Cockayne Syndrome A
Hepatomegaly, Dry hair, Tremor, Retinal pigment epithelial mottling, Splenomegaly, Cryptorchidism... OMIM:216400
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hypoketotic hypog... ORPHA:157
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Frontal upsweep of hair, Pulmonary arterial hypertension, Slender ... ORPHA:93932
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus ORPHA:1834
Trisomy 1Q
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the ... ORPHA:261344
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Ventriculomegaly OMIM:603387
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Hydrocephalus, Leukemia OMIM:619951
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hypoglycemic seizures, Obesity, Cholestasis OMIM:609734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Holoprosencep... OMIM:253800
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Thrombocytopenia, Leu... OMIM:259720
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Hirsutism ORPHA:79255
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Epista... ORPHA:79430
Familial Thyroid Dyshormonogenesis
Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Neonatal hypoglycemia ORPHA:447788
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Neonatal hypoglycemia, Tremor, Jaundice, Increased CSF lactate, Bradycardia, Neutropeni... OMIM:617248
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Hydrocephalus, Hypogonadism, T... OMIM:300514
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Synophrys, Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:620156
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Dilated third ventricle, Hydrocephalus, Hypogonadism, Failure to thri... ORPHA:500055
Cockayne Syndrome B
Hepatomegaly, Dry hair, Small for gestational age, Tremor, Abnormal hair morphology, Splenomegaly... OMIM:133540
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Joubert Syndrome With Renal Defect
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:220497
Marshall-Smith Syndrome
Ventriculomegaly, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, ... OMIM:602535
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hyperconvex nail, Highly arched eyebrow, Hydrocephalus, Athetosis, Small nail OMIM:239300
Joubert Syndrome
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:475
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Pulmonic stenosis OMIM:601186
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus, Male infertility OMIM:244400
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... OMIM:160980
Ciliary Dyskinesia, Primary, 18
Male infertility, Abdominal situs ambiguus, Immotile sperm OMIM:614874
Costello Syndrome
Deep-set nails, Curly hair, Ventriculomegaly, Hypoglycemia, Thin nail, Concave nail, Hydrocephalu... OMIM:218040
Rabin-Pappas Syndrome
Failure to thrive in infancy, Highly arched eyebrow, Retinal telangiectasia, Hydrocephalus, Obesity OMIM:620155
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Mitral stenosis OMIM:231005
Pettigrew Syndrome
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Choreoathetosis, Dandy-Walker malformation OMIM:304340
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... ORPHA:235
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Tremor, Obesity, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia, Ventricul... ORPHA:845
Desmosterolosis
Splenomegaly, Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:35107
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
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... OMIM:227646
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Portal fibrosis, Hepat... OMIM:619377
Joubert Syndrome With Ocular Defect
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:220493
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Degcags Syndrome
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... OMIM:619488
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Small for gestational age, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Le... OMIM:257300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Hydrocephalus, Irregular menstruation, Pulmonary arterial hypertension OMIM:616482
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Lujo Hemorrhagic Fever
Shock, Resting tremor, Myocarditis, Fulminant hepatitis, Leukocytosis, Subconjunctival hemorrhage... ORPHA:319213
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Hirsutism, Dystonia, Failure to thrive, Ventriculomegaly ORPHA:521426
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Hirsutism ORPHA:1865
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy... OMIM:242840
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Craniopharyngioma
Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Obesity, Hypogonadism, Cereb... ORPHA:54595
1Q44 Microdeletion Syndrome
Synophrys, Hydrocephalus, Ventriculomegaly ORPHA:238769
Encephalitis Lethargica
Tremor, Increased CSF protein concentration, Bradycardia ORPHA:83600
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Hajdu-Cheney Syndrome
Hepatomegaly, Abnormal fingernail morphology, Mitral stenosis, Splenomegaly, Synophrys, Hydroceph... ORPHA:955
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdura... ORPHA:79282
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus ORPHA:2075
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Spina bifida, Cryptorchidism, Hydro... ORPHA:84
Neuroleptic Malignant Syndrome
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Thrombocytopenia, Leukocytosis, Hyper... ORPHA:94093
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Hydrocephalus, Lateral ventricular asymmetry, Melanocytic nevus OMIM:616914
Complete Androgen Insensitivity Syndrome
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... ORPHA:99429
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Long eyelashes, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Tremor, Hydrocephalus, Pigmentary retinopathy, Neutropenia, Failure to thri... OMIM:277400
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Failure to thrive, Tremor, Dilated third ... OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Long eyelashes, Ventriculomegaly OMIM:617301
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of hair texture, Tremor, Splenomegaly, Hydrocephalus, Lymphadenopathy, ... ORPHA:667
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Facial hirsutism ORPHA:2839
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Highly arched eyebrow, Synophrys, Hydrocephalus, Low anterior hairline, Hydrocele t... OMIM:613776
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Athetosis, Dandy-Walker malformation, ... ORPHA:2719
Koolen-De Vries Syndrome
Cryptorchidism, Hypopigmentation of hair, Ventriculomegaly, Abnormality of hair texture ORPHA:96169
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Hydrocephalus, Blue irides, Irregular menstruation, Me... OMIM:101800
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity, Anemia OMIM:617244
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Abnormality of the lym... ORPHA:137667
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Ventriculomegaly, Hirsutism OMIM:617527
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Ventriculomegaly, Cachexia, Abnormality of the sp... ORPHA:2072
Hemangioblastoma
Hydrocephalus ORPHA:252054
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive OMIM:612940
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin, Thick eyebrow, Hypoglycemia OMIM:616007
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi... OMIM:612284
Lateral Meningocele Syndrome
Cryptorchidism, Coarse hair, Meningocele, Hydrocephalus OMIM:130720
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Chordee, His... OMIM:309801
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Hydrocephalus, Anencephaly, Periportal fibrosis, Holoprosencephaly, H... OMIM:269860
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism OMIM:224400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Synophrys, Abnormality of skin pigmentation, Decreased body weight, Hepatic steatosis, Hypopigmen... OMIM:619475
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia ORPHA:1335
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thromb... OMIM:227650
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Highly arched eyebrow ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Dilated th... OMIM:613154
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia ORPHA:1237
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Large for gestational age ORPHA:314588
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
7Q11.23 Microduplication Syndrome
Sparse anterior scalp hair, Cryptorchidism, Hydrocephalus, Obesity, Long eyelashes, Horizontal ey... ORPHA:96121
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Hypertension, Small nail, Ventriculomegaly, Hypoplastic fingernail OMIM:123790
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Bohring-Opitz Syndrome
Ventriculomegaly, Synophrys, Bradycardia, Severe failure to thrive, Cholelithiasis, Annular pancr... ORPHA:97297
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in... OMIM:219800
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Hypertension, Hepatic fibr... OMIM:311200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response OMIM:620327
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Gaucher Disease
Hepatomegaly, Pancytopenia, Ventriculomegaly, Tremor, Thrombocytopenia, Splenomegaly, Hydrocephal... ORPHA:355
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Panc... ORPHA:564
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Weight loss ORPHA:221098
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Hypoplastic toenails, Asplenia, Aqueductal stenosis, Myelomeningocele, Biliary atre... OMIM:306955
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Hypoglycemia, Orchitis, Pancreati... ORPHA:99826
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Failure to thrive OMIM:616881
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Pseudoaminopterin Syndrome
Sparse scalp hair, Highly arched eyebrow, Asplenia, Cryptorchidism, Hydrocephalus, Fatigable weak... ORPHA:221120
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Slender build, Small for gestational age, Testicular neoplasm, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Slender build, Small for gestational age, Testicular neoplasm, Spina bifida,... ORPHA:363958
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Jacobsen Syndrome
Abnormal eyelash morphology, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Annular pancreas, ... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Synophrys, Hydrocephalus, Low anterior hairline, High anteri... OMIM:619512
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Congestive heart failure, Right bundle branch block, Hypertrophic cardi... OMIM:617403
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Abnormality of the lymphatic system, Lymphadenopathy,... ORPHA:538
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:305450
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Abnormality of the tonsils, Spina bifida, Thrombocytopenia, Splenome... ORPHA:567
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Cryptorchidism, Hydrocephalus, Long eyelashes, Breast hypoplasia... ORPHA:1272
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Abnormal testis morphology, Abnorma... ORPHA:2556
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thrombocytopenia, Cryptorchidism, Hydrocephalus, Heart murmur, Intracranial h... ORPHA:163979
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Normal pressure hydrocephalus, Lateral ventricle dilatation, Dystonia ORPHA:300570
Arachnoiditis
Hydrocephalus ORPHA:137817
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Apert Syndrome
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:87
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Da... ORPHA:314585
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... ORPHA:636
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Failure to thrive OMIM:608091
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Malformati... OMIM:249000
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Lateral ventricle dilatation, S... ORPHA:177907
Trisomy 8P
Cryptorchidism, Hydrocephalus, Heart murmur, Low posterior hairline, Aplasia/Hypoplasia of the ga... ORPHA:264450
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:264480
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Blotching pigmentation of the skin, Bradycardia OMIM:614653
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia OMIM:612301
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive OMIM:617864
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Knobloch Syndrome
Abnormal hair morphology, Lymphangioma, Occipital encephalocele, Hydrocephalus ORPHA:1571
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus, Intention tremor ORPHA:616
Illum Syndrome
Bradycardia OMIM:208155
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Hydrocephalus, Hypertension, Cholestatic liver diseas... OMIM:270400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Overweight, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated... OMIM:619575
Icf Syndrome
Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils ORPHA:2268
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Fontaine Progeroid Syndrome
Sparse scalp hair, Failure to thrive, Tricuspid regurgitation, Absent nipple, Small for gestation... OMIM:612289
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Thick eyebrow, Low posterior hairline OMIM:245600
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Hajdu-Cheney Syndrome
Short nail, Cryptorchidism, Synophrys, Hydrocephalus, Hirsutism, Long eyelashes, Failure to thriv... OMIM:102500
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Hydrocephalus, Cirrhosis, Prostatitis ORPHA:1546
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc... ORPHA:168577
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Pulmonic stenosis ORPHA:90354
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:395
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Low anterior hairline, Facial hirsutism OMIM:260660
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Right bundle branch bloc... OMIM:617402
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Failure to thrive, Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Stromme Syndrome
Accessory spleen, Hydrocephalus OMIM:243605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Failure to thrive, Small for gesta... OMIM:264090
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Decreased fertility, Primary amenorrhea, Oligozoospermia, Hyperten... ORPHA:95699
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Generalized hy... OMIM:619321
Sturge-Weber Syndrome
Conjunctival telangiectasia, Hydrocephalus, Heterochromia iridis, Pulmonary embolism ORPHA:3205
Mend Syndrome
Cryptorchidism, Hydrocephalus, Spotty hypopigmentation, Aortic valve stenosis, Failure to thrive,... ORPHA:401973
Mend Syndrome
Cryptorchidism, Hydrocephalus, Spotty hypopigmentation, Aortic valve stenosis, Failure to thrive,... OMIM:300960
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Kabuki Syndrome
Highly arched eyebrow, Cryptorchidism, Hydrocephalus, Obesity, Long eyelashes, Failure to thrive,... ORPHA:2322
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly, Splenic cyst OMIM:618188
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Hydrocephalus, Cachexia ORPHA:220295
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypoglycemia, Intracranial hemorrhage, Pro... ORPHA:565
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Hyperte... OMIM:162200
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Dandy-Walker ma... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, D... OMIM:236670
Crouzon Syndrome
Hydrocephalus OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Hydroc... OMIM:305600
Neurooculorenal Syndrome
Highly arched eyebrow, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Recurrent hypoglycemia... OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:250989
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Mitral regurgitation, Failure to thrive, Ventriculom... ORPHA:2462
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Communicating hydrocephalus, Pancytopenia, Highly arched eyebrow, Hepatospl... ORPHA:309282
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... ORPHA:1772
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hydrocephalus, Fine hair, Hy... OMIM:210710
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Isotretinoin-Like Syndrome
Aortic valve stenosis, Lymphopenia, Hydrocephalus ORPHA:2306
Desmosterolosis
Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:602398
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus ORPHA:90652
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cafe-au-lait spot, Bone marrow hypocellularity, Anemia OMIM:614083
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Epistaxis, Highly arched eyebrow, Sparse eyebrow,... OMIM:619841
Apert Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Enl... ORPHA:580
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Hepatic steatosis, Hypogonadotropic hypogonadism, Action tremor, Tremor, Crypt... ORPHA:3455
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Hydrocephalus OMIM:618162
Meningioma
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Hydrocephalus, Obesity, Impotence, Syncope, A... ORPHA:2495
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Tetrasomy 9P
Absent gallbladder, Pericarditis, Raynaud phenomenon, Pilomatrixoma, Jaundice, Cryptorchidism, Bi... ORPHA:3310
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, O... OMIM:610828
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Hydrocephalus ORPHA:536467
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Hypogonadotropic hypogonadism, Overweight, Bradycardia, Prolonged neonatal jaundice ORPHA:226307
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Tricuspid... OMIM:619534
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Large for gestational age ORPHA:77301
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Paronychia, Dilated cardiomyopathy, Bradycardia, Nail dystrophy, Ano... ORPHA:79404
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Highly arched eyebrow, Cryptorchidism, Hydrocephalus... OMIM:194190
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Absent eyelashes, Cryptorchidism, Myelomeningocele, Hydrocephalus,... OMIM:219000
Raine Syndrome
Hydrocephalus, Highly arched eyebrow OMIM:259775
Achondroplasia
Hydrocephalus OMIM:100800
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Low posterior hairline ORPHA:261337
Lhermitte-Duclos Disease
Trichilemmoma, Hydrocephalus ORPHA:65285
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ... ORPHA:99829
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hydrocephalus, Renovascular ... ORPHA:3472
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly, Neonatal hypoglycemia, Large for gestational age, ... ORPHA:457359
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Failure to thrive, Spina bifida occulta OMIM:300373
Mohr Syndrome
Hydrocephalus OMIM:252100
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology, Cryptorchidism, Abnormality of the gallbla... ORPHA:818
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive ORPHA:220386
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Short nail, Supernumerary nipple, Splenomegaly, Cryptorchidism, Hydrocephalus, Card... OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Coffin-Siris Syndrome 12
Sparse scalp hair, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Nonco... OMIM:619325
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly ORPHA:457284
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Hyperconvex fingernails, Hypogonadism, Hypoplastic fingernail ORPHA:2658
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Hypertension, Hypomelanotic macule, Subependymal nodules, Ungual ... ORPHA:805
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Sparse lower eyelashes, Absent lower eyelashes OMIM:154400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Osteogenesis Imperfecta
Aortic regurgitation, Ventriculomegaly, Small for gestational age, Cerebral hemorrhage, Hydroceph... ORPHA:666
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Hydrocephalus ORPHA:268249
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... ORPHA:251510
Kabuki Syndrome 1
Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid... OMIM:147920
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Hydrocephalus, Failure to thrive, Cryptorchidism ORPHA:1106
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Thick eyebrow, Lateral ventricle dilatation OMIM:618367
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Campomelic Dysplasia
Short nail, Spina bifida, Hydrocephalus, Spinal dysraphism, Failure to thrive OMIM:114290
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Synophrys, Hydrocephalus, Hypogonadism, Anonychia, Anemia ORPHA:3042
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Communicating hydrocephalus, Ventriculomegaly, Large for gestational age OMIM:617011
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... OMIM:219700
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the liv... ORPHA:2369
Marden-Walker Syndrome
Hydrocephalus, Failure to thrive ORPHA:2461
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Cryptorchidism, Synophrys, Dilated cardiomyopathy, Hydrocephalus, O... OMIM:607872
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Hyperpigmentation of the skin ORPHA:637
Split Cord Malformation
Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Menin... ORPHA:573278
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Axillary freckling, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, H... ORPHA:363700
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stro... OMIM:175780
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Biliary tract abnormality, Pulmonic stenosis... OMIM:261540
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus OMIM:273395
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Cryptorchidism, Pulmonic stenosis, Dystonia, High anterior hairline... ORPHA:438213
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Small for gestational age OMIM:208150
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Biliary tract abnormality... OMIM:268300
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Spina bifida occulta, Ventriculomegaly ORPHA:709
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Anomalous splenoportal venous system OMIM:218600
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypoplastic toenails, Cryptorchidism, Hydrocele testis, Chordee OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Hydrolethalus Syndrome 1
Accessory spleen, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus OMIM:236680
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Widow's peak, Hydrocephalus, Spina bifida OMIM:304120
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Small for gestational age, Holoprosencephaly OMIM:107480
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus 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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Pcm1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Pcm1em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Pcm1em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Pcm1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Pcm1em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological entity term germ cell defect Pcm1em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pcm1.

No publications found that use IMPC mice or data for Pcm1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pcm1em1(IMPC)Tcp Exon Deletion Mice, Tissue
Pcm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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