Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Pcm1em1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Pcm1em1(IMPC)Tcp HOM Early adult 6.09×10-08
abnormal cranium morphology Pcm1em1(IMPC)Tcp HOM Early adult 4.39×10-07
prolonged RR interval Pcm1em1(IMPC)Tcp HOM Early adult 9.07×10-05
impaired glucose tolerance Pcm1em1(IMPC)Tcp HOM Early adult 5.95×10-06
abnormal coat/hair pigmentation Pcm1em1(IMPC)Tcp HOM Early adult 4.21×10-05
small spleen Pcm1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Pcm1em1(IMPC)Tcp HOM Early adult 0.00
male infertility Pcm1em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Pcm1em1(IMPC)Tcp HOM Early adult 1.70×10-18
decreased spleen weight Pcm1em1(IMPC)Tcp HOM   Early adult 7.10×10-05
decreased prepulse inhibition Pcm1em1(IMPC)Tcp HOM   Early adult 2.27×10-06
decreased lean body mass Pcm1em1(IMPC)Tcp HOM Early adult 6.51×10-05
prolonged QRS complex duration Pcm1em1(IMPC)Tcp HOM   Early adult 1.88×10-06

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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 Ophthalmoscopy

97 Images

Eye Morphology

Images Slit Lamp

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

9 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

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
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... OMIM:214450
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Hydrocephalus, Abnormal eyelash morpho... ORPHA:1008
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor OMIM:611808
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Thrombocytopenia OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly, Dilated cardiomyopathy, Fatigable weakness of skeletal muscles, Left ventricula... ORPHA:206559
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Edinburgh Malformation Syndrome
Frontal hirsutism, Jaundice, Failure to thrive, Hydrocephalus OMIM:129850
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Congestive he... OMIM:601214
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Failure to thrive, Congestive heart failure, Splenomegal... OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Lymphopenia, Type... ORPHA:100
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hepatitis, Hypopigmented sk... ORPHA:381
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Thrombocytopenia, Anemia, Dystonia, Chronic neutropenia OMIM:619302
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Low posterior hairline, Sparse facial hair, Hydrocephalus, Absent facial ha... ORPHA:2183
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Glucose intolerance, Bradycardia, Long eyebrows, Dysto... OMIM:614407
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619301
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the... ORPHA:398124
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Small nail, Tremor OMIM:619470
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Tremor, H... ORPHA:33445
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Anemia, Lymp... ORPHA:858
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Hydrocephalus ORPHA:1532
Myotonic Dystrophy 2
Insulin insensitivity, Frontal balding, Hypogonadism, Palpitations, Type II diabetes mellitus, Pr... OMIM:602668
Hemochromatosis, Type 1
Alopecia, Impotence, Cardiomyopathy, Congestive heart failure, Azoospermia, Glucose intolerance, ... OMIM:235200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Generalized dystonia, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, ... OMIM:618235
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive ORPHA:250994
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Congestive heart failure, Hepatic steatosis, Bradycardia, Hepato... OMIM:619048
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Childhoo... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Childhoo... ORPHA:71526
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hydr... OMIM:615630
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Failure to thrive, Abnormality of the liver, Glucose intolerance, Arrhythmi... OMIM:610131
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Generalized dystonia, Congestive heart failure, Hypertrophic cardiomyopathy, I... ORPHA:70472
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Hyperglycemia, Is... ORPHA:90065
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Increased CSF lactate, Bradycardia OMIM:616277
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital-Onset Steinert Myotonic Dystrophy
Ventriculomegaly, Bundle branch block, Obesity, Decreased body weight, First degree atrioventricu... ORPHA:589821
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, C... OMIM:616034
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl... ORPHA:137675
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Temple Syndrome
Recurrent hypoglycemia, Few cafe-au-lait spots, Obesity, Type II diabetes mellitus, Hydrocephalus... ORPHA:254516
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hydrocephalus ORPHA:141333
Stiff-Person Syndrome
Vitiligo, Hypertension, Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Diabetes... OMIM:184850
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal fingernail morphology, Hypertrophic cardiomyopathy, Hypoplastic toenails, Low posterior ... ORPHA:2701
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly,... ORPHA:163596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Generalized hyperpigmentation, Sple... ORPHA:3452
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Lipoyltransferase 1 Deficiency
Dystonia, Ventriculomegaly, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Broad eyebrow, Small for gestational age, Synophrys OMIM:618302
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Priapism, Congestive heart failure, Bundle branc... ORPHA:466677
Fried Syndrome
Hydrocephalus ORPHA:85335
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... ORPHA:66529
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Decreased body weight, Hydrocephalus, Thrombocytopenia, An... OMIM:617053
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hepatic steatosis, Premature v... OMIM:212138
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Edinburgh Malformation Syndrome
Failure to thrive, Hirsutism, Low posterior hairline, Generalized hirsutism, Hydrocephalus, Brush... ORPHA:1895
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypogonadotropic hypogonadism, Hypo... ORPHA:177910
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Bradycardia, Dystonia, Small for ge... OMIM:614702
Classic Galactosemia
Hypoglycemia, Postural tremor, Action tremor, Premature ovarian insufficiency, Abnormal erythrocy... ORPHA:79239
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Lymphadenopathy, Hypo... ORPHA:2221
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Abnormal number of dense granules... OMIM:614072
H Syndrome
Alopecia, Histiocytosis, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosp... ORPHA:168569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis, Hydrocephalus, Hypertension OMIM:619111
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hydrocephalus, Hand tremor ORPHA:99947
Noonan Syndrome With Multiple Lentigines
Multiple lentigines, Hypertrophic cardiomyopathy, Melanocytic nevus, Bundle branch block, Decreas... ORPHA:500
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Hirsuti... OMIM:613327
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy OMIM:613155
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Arrhythmia, Bradycardia, Premature ovarian insufficiency, Diabetes ... OMIM:609286
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventriculomegaly, Hydrocephalus OMIM:602501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hyperglycemia, Hirsutism, Nail dysplasia, Hydrocephalus OMIM:175700
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Glutaric Acidemia I
Lateral ventricle dilatation, Failure to thrive, Hypoglycemia, Opisthotonus, Hydrocephalus, Hepat... OMIM:231670
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Gracile Bone Dysplasia
Hydrocephalus, Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Failure to thrive, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, H... ORPHA:60040
Adams-Oliver Syndrome
Alopecia, Gastrointestinal hemorrhage, Failure to thrive, Hypoplastic fingernail, Leukopenia, Por... ORPHA:974
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bun... ORPHA:99827
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Hydrocephalus, Truncal obesity, Overweight, Small ... OMIM:616222
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Failure to th... OMIM:617506
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... OMIM:619313
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
B4Galt1-Cdg
Splenomegaly, Hydrocephalus, Hepatomegaly, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Long eyelashes, Hydrocephalus OMIM:618577
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Alopecia, Cardiomyopathy, Bundle branch block, Angina pe... ORPHA:93672
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Obesity, Blue irides, Red hair, Diabetes mellitus OMIM:614613
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Spotty hyperpigmentation, Sinus tachycardia, Failure to thrive, Nail dy... OMIM:614008
Congenital Sialidosis Type 2
Abnormal EKG, Hepatosplenomegaly, Telangiectasia, Hydrocephalus, Generalized hypertrichosis, Hepa... ORPHA:93400
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hypertension, Hydrocephalus OMIM:615862
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormality of th... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Low anterior hairline OMIM:613153
Crouzon Syndrome With Acanthosis Nigricans
Melanocytic nevus, Hydrocephalus OMIM:612247
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Bradycardia OMIM:232500
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Tenorio Syndrome
Ventriculomegaly, Hypoglycemia, Hypertrichosis, Thick eyebrow, Syncope, Raynaud phenomenon, Hydro... OMIM:616260
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Pulmonary insufficiency, Right bundle branch block, Intention tremor OMIM:619322
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Failure to thrive, Cholestasis, Pancytopenia, Splenomegaly, Cirrhosis, Hydrocep... OMIM:614576
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality... ORPHA:2169
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive ORPHA:363717
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Horizontal eyebrow, Failure to thrive, Long eyelashes, Hydrocephalus, Small for... OMIM:609757
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Mitochondrial Complex I Deficiency, Nuclear Type 37
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Opisthotonus, Pulmonary arterial hype... OMIM:619272
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive OMIM:245200
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Ventriculomegaly, Failure to t... ORPHA:3322
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo... OMIM:185070
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Adams-Oliver Syndrome 2
Alopecia, Small nail, Lateral ventricle dilatation, Low anterior hairline, Hydrocephalus OMIM:614219
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus, Hypertrichosis OMIM:618590
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:411515
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia OMIM:610015
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Primary Ciliary Dyskinesia
Abnormal sperm motility, Ventriculomegaly, Female infertility, Polysplenia, Hydrocephalus, Asplen... ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Pulmonary arterial hypertension,... OMIM:620642
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Melanosis, Neurocutaneous
Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Dandy-Walker malfo... OMIM:249400
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Abnormality of the spleen, T... ORPHA:1666
Optic Pathway Glioma
Hydrocephalus, Fatigable weakness ORPHA:2086
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Congestive heart failure, Hepatosplenomegaly, Abnormality of retinal pigmentation... OMIM:309900
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Hep... ORPHA:585
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Failure to thrive, Long eyelashes, Thick eyebrow, Colpocephaly, Hydrocephalus, ... OMIM:619833
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus ORPHA:2770
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ... OMIM:618541
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Oligozoospermia, Male infertility ORPHA:3000
Sheehan Syndrome
Sparse pubic hair, Hypoglycemia, Breast hypoplasia, Obesity, Palpitations, Decreased female libid... ORPHA:91355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Hydrocephalus ORPHA:171839
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Bradycardia, Perit... ORPHA:391673
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Occipital encephalocele, Portal hypertension, Splenomegaly, Congenital hep... ORPHA:1454
Simpson-Golabi-Behmel Syndrome
Small nail, Polysplenia, Hypoglycemia, Supernumerary nipple, Bundle branch block, Cardiomyopathy,... ORPHA:373
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Decreased CSF homovanillic acid con... OMIM:608643
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Hypotension, Failure to thrive, Bradycardia, Tremor, Pulmonary arterial h... OMIM:277400
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of secondary sexual hair... ORPHA:91348
Muenke Syndrome
Hydrocephalus, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Highly arched eyebrow, Failure to thrive, Retinal telangiectasia OMIM:620157
D-Glyceric Aciduria
Elevated CSF D-glyceric acid concentration, Failure to thrive, Hypoglycemia, Opisthotonus, Bradyc... OMIM:220120
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Hydrocephalus OMIM:601794
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Houge-Janssens Syndrome 2
Abnormal hair whorl, Ventriculomegaly, Hydrocephalus OMIM:616362
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low posterior hairline, Pulmonic stenosis, Hydrocephalus, Dandy-Walker mal... OMIM:220210
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Hypoketotic hypoglycemia, Sp... OMIM:610768
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Hypertrichosis, Hypertrophic cardiomyopathy, Tricuspid regurgitation... ORPHA:505248
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Mottled pigmentation, Large for gestational age, Bradycardia ORPHA:226313
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Bradycardia, Thrombocytopenia, Cerebral hemorrhag... OMIM:617397
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Small nail, Abnormal fingernail morphology, Encephalocele, Hydrocephalus, Meni... ORPHA:1908
Crouzon Syndrome
Hydrocephalus, Melanocytic nevus, Hypopigmented skin patches ORPHA:207
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Increased CSF lactate, Leg dystonia, Bradycardia, Neonatal hypoglyc... ORPHA:565624
Cardiofaciocutaneous Syndrome
Fine hair, Multiple lentigines, Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the eyebrow, G... ORPHA:1340
Sim1-Related Prader-Willi-Like Syndrome
Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Hypogonadism, Obesity, Type II... ORPHA:398079
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Hydrocephalus ORPHA:370959
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Multiple lentigines, Hypertrophic cardiomyopathy, Splenomegaly, Absent eyelash... OMIM:115150
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Proteus-Like Syndrome
Irregular hyperpigmentation, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Hydrocephalu... ORPHA:2969
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... ORPHA:70591
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Failure to thrive, Hypogonadism, Hydrocephalus, Dandy-Wa... ORPHA:96170
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Persistent fetal circulation, Thro... OMIM:618775
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Failure to thrive, Hydrocephalus, Dandy-Walker malformat... OMIM:609029
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liv... ORPHA:84064
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Hydrocephalus, Abnormality of skin pigmentation ORPHA:2180
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hypopigmentation of the skin, Hirsutism, Opisthotonus, Hydrocephalus, Choreoath... OMIM:614969
Leopard Syndrome 1
Third degree atrioventricular block, Multiple lentigines, Bundle branch block, Hypertrophic cardi... OMIM:151100
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus, Hypoglycemia OMIM:616355
Tetanus
Tremor, Opisthotonus, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subdural hemorrhage, Limb dystonia, Tremor, Dystonia, Subependymal nodules, Fas... ORPHA:25
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Recurrent tonsillitis, Coarse hair, Atrioventricular block, Ventriculomeg... ORPHA:581
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pancytopenia, Splenomegaly, Anemia, Hydrocephalus, Thrombocytopenia, Hepatomegaly OMIM:259700
Fabry Disease
Atrioventricular block, Congestive heart failure, Bundle branch block, Hypertrophic cardiomyopath... ORPHA:324
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response ORPHA:309155
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Mitral regurgitation, Hir... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Hydrocephalus, Generalize... ORPHA:2720
Alexander Disease
Hypotension, Failure to thrive, Tremor, Hypertension, Hydrocephalus, Hyperpigmented nevi, Aqueduc... ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcificat... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Sparse hair, Noncommunicating hydrocephalus, Synophrys OMIM:619320
Hurler Syndrome
Cardiomyopathy, Thick eyebrow, Splenomegaly, Generalized hirsutism, Angina pectoris, Abnormality ... ORPHA:93473
Sandhoff Disease
Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatomegaly, Impotence OMIM:268800
Trisomy 17P
Aortic valve stenosis, High anterior hairline, Low posterior hairline, Broad eyebrow, Generalized... ORPHA:261290
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, L... OMIM:620371
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hydrocephalus, Thrombocytopenia, ... OMIM:259710
Mucopolysaccharidosis Type 1
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Low anterior hairline, Gener... ORPHA:579
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Sparse eyebrow, Hypoplastic toenails, Hydrocephalus, Dandy-Walker malforma... ORPHA:459061
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Polysplenia, Male infertility OMIM:613807
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bifida OMIM:207950
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Frontal upsweep of hair, Telangiectasia, Hydrocephalus, Dandy-Walker malf... OMIM:612582
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Hydroceph... ORPHA:1647
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopigmentation of th... ORPHA:167
Joubert Syndrome 14
Highly arched eyebrow, Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypert... OMIM:614424
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:272200
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Right ventricular failure, Tricuspid regurgitatio... ORPHA:97214
Holoprosencephaly
Highly arched eyebrow, Spinal dysraphism, Hypoglycemia, Failure to thrive in infancy, Abnormality... ORPHA:2162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,... ORPHA:163746
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Anemia, Neutropenia,... ORPHA:90051
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Long eyelashes, Thick eyebrow, Hydrocephalus, Exaggerated startle response, Dan... OMIM:617281
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Hypertrophic cardiomyopathy, Hypoplastic toenails, Hydrocephalus, Dandy-Walker... OMIM:612938
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the hairline, Hydrocephalus, Decreased body weight OMIM:614886
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita... OMIM:253200
Tetrasomy 5P
Failure to thrive, Congestive heart failure, Pulmonary arterial hypertension, Hydrocephalus, Hear... ORPHA:3309
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Hermansky-Pudlak Syndrome 1
Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt... OMIM:203300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic ... OMIM:616084
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Tricuspid regurgitation, Sparse eyelashes, Low posterior hairline, ... OMIM:612863
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia, Synophrys OMIM:620351
Mucopolysaccharidosis, Type Vii
Coarse hair, Cardiomyopathy, Thick eyebrow, Splenomegaly, Hirsutism, Hydrocephalus, Hepatomegaly OMIM:253220
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Congenital Syphilis
Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc... ORPHA:499009
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Tremor ORPHA:79254
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Triploidy
Abnormality of the gallbladder, Hydrocephalus, Hepatomegaly, Meningocele, Holoprosencephaly, Abno... ORPHA:3376
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Congenital giant melanocytic nevus, Generalized hirsutism, Hydrocepha... ORPHA:626
Bresek Syndrome
Alopecia, Hydrocephalus ORPHA:85284
Albers-Schönberg Osteopetrosis
Anemia, Hydrocephalus, Abnormal leukocyte morphology ORPHA:53
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Bloom Syndrome
Insulin resistance, Recurrent tonsillitis, Hypopigmentation of the skin, Paronychia, Azoospermia,... ORPHA:125
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol... ORPHA:3440
Coccidioidomycosis
Vasculitis, Increased CSF protein concentration, Vasospasm, Hypoglycorrhachia, Abnormality of the... ORPHA:228123
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Congestive heart failure, Hypogonadi... ORPHA:85450
3C Syndrome
Aortic valve stenosis, Ventriculomegaly, Hypoplastic fingernail, Hydrocephalus, Dandy-Walker malf... ORPHA:7
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Obesity... ORPHA:98754
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Cockayne Syndrome A
Irregular menstruation, Pigmentary retinopathy, Dry hair, Ventriculomegaly, Retinal pigment epith... OMIM:216400
Prader-Willi Syndrome
Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Hypogonadism, Primary amenorrh... ORPHA:739
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic calcification, Arrhythmia, Hydrocephalus, Hepat... ORPHA:157
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Obesity... ORPHA:98793
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Obesity... ORPHA:177904
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Obesity... ORPHA:177901
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Magel2-Related Prader-Willi-Like Syndrome
Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Hypogonadism, Type II diabetes... ORPHA:398069