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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
prolonged QRS complex duration Pcm1em1(IMPC)Tcp HOM   Early adult 1.88×10-06
male infertility Pcm1em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Pcm1em1(IMPC)Tcp HOM Early adult 1.70×10-18
abnormal coat/hair pigmentation Pcm1em1(IMPC)Tcp HOM Early adult 4.21×10-05
abnormal cranium morphology Pcm1em1(IMPC)Tcp HOM Early adult 4.39×10-07
hydrocephaly Pcm1em1(IMPC)Tcp HOM Early adult 0.00
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
prolonged RR interval Pcm1em1(IMPC)Tcp HOM Early adult 9.07×10-05
abnormal skin morphology Pcm1em1(IMPC)Tcp HOM Early adult 0.00
impaired glucose tolerance Pcm1em1(IMPC)Tcp HOM Early adult 5.95×10-06
small spleen Pcm1em1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Pcm1em1(IMPC)Tcp HOM Early adult 6.09×10-08
decreased lean body mass Pcm1em1(IMPC)Tcp HOM Early adult 6.51×10-05

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 Ophthalmoscopy

97 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Recurrent tonsillitis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmenta... OMIM:214450
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevu... ORPHA:1008
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly, Tremor OMIM:611808
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension, Thrombocytopenia OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Fatigable weakness of skeletal muscles, Right bundle branc... ORPHA:206559
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Edinburgh Malformation Syndrome
Frontal hirsutism, Failure to thrive, Jaundice, Hydrocephalus OMIM:129850
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Naxos Disease
Congestive heart failure, Nail dystrophy, Right ventricular cardiomyopathy, Subungual hyperkerato... OMIM:601214
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Hypopigmentation o... OMIM:269920
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Hydrocephalus, CSF lymphocytic pleiocytosis, Dystonia, Hepatosplenome... OMIM:610333
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul... ORPHA:563
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Tremor, Multiple cafe-au-lait spots, Failure... ORPHA:100
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, E... ORPHA:381
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Dystonia, Thrombocytopenia OMIM:619302
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Long eyebrows, Impaired glucose tolerance, Intention tremor, Failure to thrive, Dyst... OMIM:614407
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Low posterior hairline, Hypergonadotropic hypogonadism, Obesity, Spar... ORPHA:2183
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly OMIM:300884
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Hydrocep... ORPHA:398124
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Tremor, Small nail OMIM:619470
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Genera... ORPHA:33445
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Hydrocephalus, Abnormality of retinal pigmentati... ORPHA:858
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... OMIM:616201
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Myotonic Dystrophy 2
Frontal balding, Right bundle branch block, Insulin insensitivity, Oligozoospermia, Premature ven... OMIM:602668
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Toenail dysplasia ORPHA:1532
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Azoospermia, He... OMIM:235200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Synophrys,... OMIM:609637
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive, Genera... OMIM:618235
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive ORPHA:250994
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Failure to thrive, Hypoglycemia, Hepatic ste... OMIM:619048
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Hypopigmentat... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Red hair, Hypopigmentat... ORPHA:71526
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left ventricular ejecti... OMIM:115197
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Left bundle branch block, Impaired glucose tolerance, Failure to thrive, Ar... OMIM:610131
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hydrocephalus, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Vent... OMIM:615630
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypopigmentation of hair, Increased CSF lactate, Hypertrophic cardiomyo... ORPHA:70472
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Increased CSF l... ORPHA:90065
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased CSF lactate, Dystonia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS complex, Pulmonary venous... ORPHA:75565
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
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
Decreased body weight, Obesity, Bundle branch block, First degree atrioventricular block, Ventric... ORPHA:589821
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Red hair OMIM:620195
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hepatomegaly, Atrial fi... ORPHA:137675
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure to thrive, Dyst... OMIM:616034
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hypopigmentation of hair, Pan... ORPHA:79477
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Temple Syndrome
Hydrocephalus, Obesity, Few cafe-au-lait spots, Recurrent hypoglycemia, Type II diabetes mellitus... ORPHA:254516
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Stiff-Person Syndrome
Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Vitiligo, Tachycardia, Diabetes... OMIM:184850
Biemond Syndrome Type 2
Hydrocephalus, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Aplasia/Hypoplasia of the eyebrow, Hydrocephalus, Sparse scalp hair, Low posterior hairline, Hype... ORPHA:2701
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, El... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnorm... ORPHA:163596
Lipoyltransferase 1 Deficiency
Ventriculomegaly, Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Erec... ORPHA:3452
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Broad eyebrow, Small for gestational age, Synophrys OMIM:618302
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Acute pancreatitis, Tremor... ORPHA:466677
Fried Syndrome
Hydrocephalus ORPHA:85335
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Mirage Syndrome
Anemia, Hydrocephalus, Decreased body weight, Hypergonadotropic hypogonadism, Hypoplastic spleen,... OMIM:617053
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Pr... OMIM:212138
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Kleeblattschaedel
Hydrocephalus OMIM:148800
Edinburgh Malformation Syndrome
Hydrocephalus, Hirsutism, Low posterior hairline, Synophrys, Failure to thrive, Generalized hirsu... ORPHA:1895
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, Hypogonad... ORPHA:177910
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive, Dystonia, Hypoglycemia, Small for ge... OMIM:614702
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Classic Galactosemia
Premature ovarian insufficiency, Jaundice, Hepatomegaly, Male infertility, Secondary amenorrhea, ... ORPHA:79239
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, We... ORPHA:2221
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Spontaneous, recurrent epistaxis, Hypopigmentation of the skin, Abnorma... OMIM:614072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
H Syndrome
Abnormal cardiovascular system physiology, Lymphadenopathy, Hyperpigmentation of the skin, Hydroc... ORPHA:168569
Coach Syndrome 2
Portal fibrosis, Hydrocephalus, Hypertension, Congenital hepatic fibrosis, Hepatic fibrosis 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
Hydrocephalus, Hand tremor, Postural tremor ORPHA:99947
Noonan Syndrome With Multiple Lentigines
Multiple lentigines, Spina bifida occulta, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle... ORPHA:500
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Chediak-Higashi Syndrome
Jaundice, Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Hepatomegaly... OMIM:214500
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Hyperinsulinemia, Bradycardia, Atrial fibrillation, Hirsutis... OMIM:613327
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Diabetes ... OMIM:609286
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Leukemia OMIM:602501
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Hydrocephalus, Hirsutism, Hyperglycemia, Ventriculomegaly OMIM:175700
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Failure to thrive, Dystonia, Opisthotonus, Lateral ventricle dilatat... OMIM:231670
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hypermelanotic macule, Hydrocephalus, Cerebral ischemia, Failure to thrive, Telangiectasia of the... ORPHA:60040
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem... ORPHA:99827
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Hypoplastic fingernail, Encephalocele, Aplastic/hypoplast... ORPHA:974
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Dandy-Walker malformation, Righ... OMIM:617506
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Neonatal hypoglycemia, Bradycardia, Hydrocephalus, ST segment elevation... OMIM:261740
Temple Syndrome
Maturity-onset diabetes of the young, Hydrocephalus, Obesity, Overweight, Truncal obesity, Small ... OMIM:616222
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
B4Galt1-Cdg
Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Splenomegaly, Small for gestational age ORPHA:79332
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Dilated cardiomyopathy ORPHA:272
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Long eyelashes OMIM:618577
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Arrhythmi... ORPHA:93672
Nestor-Guillermo Progeria Syndrome
Nail dystrophy, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hy... OMIM:614008
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Obesity, Diabetes mellitus, Blue irides, Fair hair OMIM:614613
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Congenital Sialidosis Type 2
Hepatomegaly, Hydrocephalus, Generalized hypertrichosis, Hepatosplenomegaly, Abnormal EKG, Telang... ORPHA:93400
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Cardiomyopathy, Portal hypertension, Failure to thrive, Hepatosplenomegaly OMIM:232500
Nephronophthisis 18
Hydrocephalus, Cholestasis, Hypertension, Portal fibrosis OMIM:615862
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, ... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Low anterior hairline OMIM:613153
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Tenorio Syndrome
Hydrocephalus, Hypoinsulinemia, Thick eyebrow, Raynaud phenomenon, Syncope, Ventriculomegaly, Hyp... OMIM:616260
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block, Insulin resistance, Intention tremor OMIM:619322
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Pancytopenia, Hydrocephalus, Cholestasis, Failure to thrive, Thrombocyto... OMIM:614576
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive ORPHA:363717
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Increased CSF lactate, Pulmonary arterial hypertension, Failure to thrive, Opisthoto... OMIM:619272
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Long eyelashes, Horizontal eyebrow, Failure to thrive, Ventriculomegaly, Small for... OMIM:609757
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Hypertension, ... ORPHA:2169
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Krabbe Disease
Hydrocephalus, Failure to thrive, Autoimmune thrombocytopenia, Increased CSF protein concentration OMIM:245200
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Ventriculomegaly, Abnormal leukocyte morpholog... ORPHA:3322
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Epistaxis, Subarachnoid hemorrhage, Th... OMIM:185070
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Right bundle branch block, Hypertrichosis OMIM:618590
Adams-Oliver Syndrome 2
Small nail, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Alopecia OMIM:614219
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation, Bradycardia OMIM:610015
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Primary Ciliary Dyskinesia
Male infertility, Hydrocephalus, Asplenia, Abnormal sperm motility, Female infertility, Ventricul... ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Ciliary Dyskinesia, Primary, 53
Polysplenia, Pulmonary arterial hypertension, Dilated fourth ventricle, Hypoplastic spleen, Abdom... OMIM:620642
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocytic nevi, Choroid plexus pa... OMIM:249400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Dextrocardia
Hydrocephalus, Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen, ... ORPHA:1666
Optic Pathway Glioma
Hydrocephalus, Fatigable weakness ORPHA:2086
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Opisthotonus, Bradycardia OMIM:619814
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hepatomegaly, Hydrocephalus, Abnormality of retinal pigmentation, Hepat... OMIM:309900
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Abnormality of retinal pigmentation, Thick eyebrow, Splenomegaly, Co... ORPHA:585
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Hydrocephalus, Long eyelashes, Failure to thrive, Thick eyebrow, C... OMIM:619833
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome... OMIM:618541
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia, Abnormal hair morphology ORPHA:3000
Necrotizing Enterocolitis
Neutropenia, Abnormal glucose homeostasis, Bradycardia, Hypotension, Leukocytosis, Thrombocytopen... ORPHA:391673
Sheehan Syndrome
Breast hypoplasia, Amenorrhea, Orthostatic hypotension, Normochromic anemia, Bradycardia, Dyspare... ORPHA:91355
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Simpson-Golabi-Behmel Syndrome
Nail dysplasia, Hepatomegaly, Prolonged QT interval, Small nail, Dandy-Walker malformation, Cardi... ORPHA:373
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Aortic regurgitation ORPHA:2181
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Obesity ORPHA:171839
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cirrhosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Intrahepa... ORPHA:1454
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Decreased CSF homovanillic acid concentration, Athetosis, Blephar... OMIM:608643
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Bradycardia, Hydrocephalus, Megaloblastic anemia, Tremor, Cardiac arrest, Hypotensi... OMIM:277400
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
D-Glyceric Aciduria
Elevated CSF D-glyceric acid concentration, Bradycardia, Failure to thrive, Opisthotonus, Hypogly... OMIM:220120
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Hydrocephalus, Infertility, Oligozoospermia, Impotence, Abn... ORPHA:91348
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hydrocephalus, Hypopigmentation of hair ORPHA:53271
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Intellectual Developmental Disorder, Autosomal Dominant 70
Highly arched eyebrow, Failure to thrive, Retinal telangiectasia, Hydrocephalus OMIM:620157
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Bradycardia, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Dilat... OMIM:610768
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Obesity, Hypogonadism OMIM:601794
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Abnormal hair whorl OMIM:616362
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Low posterior hairline, Pulmonic stenosis, Aortic valve... OMIM:220210
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Mottled pigmentation, Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Pseudo-Torch Syndrome 2
Hepatomegaly, Bradycardia, Thrombocytopenia, Cerebral hemorrhage, Lateral ventricle dilatation, V... OMIM:617397
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Anemia, Thick hair, Hydrocephalus, Tricuspid regurgitation, Pulmonary a... ORPHA:505248
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Leg dystonia, Bradycardia, Increased CSF lactate, Lateral ventricle dilata... ORPHA:565624
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Small nail, Hydrocephalus, Abnormal fingernail morpholog... ORPHA:1908
Crouzon Syndrome
Hypopigmented skin patches, Hydrocephalus, Melanocytic nevus ORPHA:207
Cardiofaciocutaneous Syndrome
Multiple lentigines, Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growi... ORPHA:1340
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Failure to thrive, Obesity, ... ORPHA:398079
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Dilated fourth ventricle, Ventriculomegaly ORPHA:370959
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... ORPHA:70591
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Hyperpigmentation of the skin, Slow-growing hair, Hydrocephalus, Absent eyel... OMIM:115150
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... OMIM:618775
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Proteus-Like Syndrome
Irregular hyperpigmentation, Hydrocephalus, Heterochromia iridis, Communicating hydrocephalus, Sp... ORPHA:2969
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Infertility, Pulmonic stenosis, Failure to thrive, Aort... ORPHA:96170
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Emanuel Syndrome
Torticollis, Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Failure to thrive, Aort... OMIM:609029
Tetanus
Bradycardia, Hypertension, Tremor, Opisthotonus, Tachycardia ORPHA:3299
Leopard Syndrome 1
Multiple lentigines, Spina bifida occulta, Hypoplasia of the ovary, Delayed menarche, Hypertrophi... OMIM:151100
Syndromic Diarrhea
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Aortic regurgitation, Hypopigmentation of hair, Br... ORPHA:84064
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Abnormality of skin pigmentation, Obesity ORPHA:2180
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Hirsutism, Hypopigmentation of the skin, Synophrys, Opisthotonus, Ventriculomegaly... OMIM:614969
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Hypoglycemia OMIM:616355
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... OMIM:607361
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Subependymal nodules, Tremor, Athetosis, Retinal hemorrhage, Communicating ... ORPHA:25
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Hyper... ORPHA:324
Mucopolysaccharidosis Type 3
Coarse hair, Hepatomegaly, Reduced left ventricular ejection fraction, Thick hair, Hydrocephalus,... ORPHA:581
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hydrocephalus, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:259700
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Hurler Syndrome
Hepatomegaly, Aortic regurgitation, Hydrocephalus, Hirsutism, Cardiomyopathy, Enlarged tonsils, H... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Generalized hypopigmentation, White hair, Iris hypopigmentation, Abnormality of ne... ORPHA:2720
Alexander Disease
Aqueductal stenosis, Hyperpigmented nevi, Hydrocephalus, Hypertension, Tremor, Hypotension, Failu... ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hepatomegaly, Hypoketotic hypoglycemia, Hydrocephalus, Cardiomyopathy, Arrhythmia, V... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 65
Low posterior hairline, Synophrys, Thin eyebrow, Noncommunicating hydrocephalus, Sparse hair OMIM:619320
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Impotence, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Hurler Syndrome
Hepatomegaly, Angina pectoris, Hydrocephalus, Abnormality of the tonsils, Hypertension, Cardiomyo... ORPHA:93473
Trisomy 17P
High anterior hairline, Broad eyebrow, Hydrocephalus, Low posterior hairline, Aortic valve stenos... ORPHA:261290
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Hydranencephaly, Highly arched eyebrow, Hydrocephalus, Splenic cyst, Decreased body... OMIM:620371
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Mucopolysaccharidosis Type 1
Congestive heart failure, Hydrocephalus, Abnormality of the tonsils, Hypertrophic cardiomyopathy,... ORPHA:579
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hydrocephalus, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematop... OMIM:259710
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Sparse scalp hair, Aortic valve stenosis, Sparse eyebro... ORPHA:459061
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Polysplenia, Reduced sperm motility OMIM:613807
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Opisthotonus OMIM:207950
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Frontal upsweep of hair, Pigmentary retinopathy, Telang... OMIM:612582
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Hydrocephalus, Dandy-Walker malformation, Abnormal fingernail morphol... ORPHA:1647
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hypopigmentation of the skin, Epistaxis, Splenomegaly, Neutropenia... ORPHA:167
Eisenmenger Syndrome
Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave... ORPHA:97214
Joubert Syndrome 14
Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malformation, Hype... OMIM:614424
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Bradycardia, Decreased body weight, Hypotension, Leukocytosis, Th... ORPHA:90051
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Splenomegaly, Ventriculomegaly OMIM:272200
Holoprosencephaly
Encephalocele, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malformation, Hypoglycemia, Syn... ORPHA:2162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He... ORPHA:163746
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Dandy-Walker malformation, Exaggerated startle response, Long eyelashes, Thick eye... OMIM:617281
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Failure to thrive, Hypopla... OMIM:612938
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Decreased body weight, Abnormality of the hairline, Cholelithiasis OMIM:614886
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Cervical myelopathy, Hepatomegaly, Hydrocephalus, Sinus tachycardia, Car... OMIM:253200
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Synophrys, Tricuspid regurgitation, Bradycardia OMIM:620351
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Failure to thrive, Hear... ORPHA:3309
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Hematochezia, Epistaxis, ... OMIM:203300
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Hydrocephalus, Low posterior hairlin... OMIM:612863
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Cardiomyopathy, Communicating hyd... OMIM:616084
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Thick eyebrow, Splenomegaly, Coarse hair OMIM:253220
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Hydrocephalus, CSF pleocytosis, Prolonged neo... ORPHA:499009
Classic Phenylketonuria
Tremor, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati... ORPHA:216694
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Meningocele, Hydrocephalus, Holoprosencephaly, Abno... ORPHA:3376
Bresek Syndrome
Hydrocephalus, Alopecia ORPHA:85284
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Congenital giant melanocytic nevus, Hydrocephalus, Abnormality of ski... ORPHA:626
Albers-Schönberg Osteopetrosis
Hydrocephalus, Abnormal leukocyte morphology, Anemia ORPHA:53
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Recurrent tonsillitis,... ORPHA:125
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Coccidioidomycosis
Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Hydrocephalus, Vasculitis, CSF lympho... ORPHA:228123
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Lymphadenopathy, Abn... ORPHA:85450
3C Syndrome
Hypoplastic fingernail, Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Aortic valve... ORPHA:7
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Failure to thrive, Iris hypo... ORPHA:98754
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Cockayne Syndrome A
Normal pressure hydrocephalus, Hepatomegaly, Irregular menstruation, Hypertension, Tremor, Pigmen... OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Prader-Willi Syndrome
Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Infertility, Failure to thr... ORPHA:739
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Failure to thrive, Iris hypo... ORPHA:98793
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hydrocephalus, Cardiomyopathy, Arrhythmia, Hepatic calcif... ORPHA:157
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Failure to thrive, Iris hypo... ORPHA:177904
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Bile duct prol... OMIM:611134
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Failure to thrive, Iris hypo... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Increased body weight, Hypopigmentation of the skin, Infertility, Failu... ORPHA:398069
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormality of the liver, Abnormality of the spleen ORPHA:1834
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity, Red hair, Hypoglycemic seizures OMIM:609734
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Mitral regurgitation OMIM:603387
Squalene Synthase Deficiency
Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin,... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Exaggerated startle response, Pulmonic stenosis, Holoprosencephaly,... OMIM:253800
47,Xyy Syndrome
Hydrocephalus, Male infertility, Oligozoospermia, Azoospermia ORPHA:8
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Obesity, Female infer... ORPHA:261529
Monosomy 18Q
Congestive heart failure, Hydrocephalus, Left-to-right shunt, Aortic valve stenosis, Failure to t... ORPHA:1600
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Lowry-Maclean Syndrome
Hydrocephalus, Generalized hypertrichosis, Abnormality of the abdominal organs ORPHA:2409
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the nail, Hydrocephalus, Hypertension, Melanocytic nevus, Abnormality of the pancreas ORPHA:1555
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Synophrys OMIM:620156
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hydrocephalus, Leukocytosis, H... OMIM:259720
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hydrocephalus, Hypergonadotropic hypogonadism, Thrombocytopenia, Hypogonadism, V... OMIM:300514
Fg Syndrome Type 1
Hydrocephalus, Pulmonary arterial hypertension, Slender build, Ventriculomegaly, Frontal upsweep ... ORPHA:93932
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Abnormality of the pancreas ORPHA:1926
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow, Ventriculomegaly,... ORPHA:1812
Hec Syndrome
Cardiomyopathy, Communicating hydrocephalus, Arrhythmia ORPHA:2119
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Jaundice, Bradycardia, Increased CSF lactate, Tremor, Failure to thrive, D... OMIM:617248
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Neonatal hypoglycemia, Intracranial hemorrhage ORPHA:447788
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Leukemia, Supernumerary nipple, Hydrocephalus OMIM:619951
Gm1 Gangliosidosis Type 1
Hirsutism, Cardiomyopathy, Exaggerated startle response, Hepatosplenomegaly ORPHA:79255
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Hydrocephalus, Tremor, Encephalocele ORPHA:220497
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Small nail, Highly arched eyebrow, Hydrocephalus, Athetosis, Hyperconvex nail OMIM:239300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Failure to thrive, Hypogonadism, Ventriculomegaly, Overwe... ORPHA:500055
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion... OMIM:160980
Joubert Syndrome
Highly arched eyebrow, Hydrocephalus, Tremor, Encephalocele ORPHA:475
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the nails, Hypoplastic toenails ORPHA:261344
Osteootohepatoenteric Syndrome
Portal fibrosis, Anemia, Hydrocephalus, Microvesicular hepatic steatosis, Cholestasis, Failure to... OMIM:619377
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility, Communicating hydrocephalus OMIM:244400
Rabin-Pappas Syndrome
Retinal telangiectasia, Highly arched eyebrow, Hydrocephalus, Obesity, Failure to thrive in infancy OMIM:620155
Aromatase Deficiency
Male infertility, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Generalized hirsuti... ORPHA:91
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Choreoathetosis OMIM:304340
Costello Syndrome
Lymphangiectasis, Thin nail, Hyperpigmentation of the skin, Hydrocephalus, Hypertrophic cardiomyo... OMIM:218040
Cockayne Syndrome B
Normal pressure hydrocephalus, Severe failure to thrive, Hepatomegaly, Abnormal hair morphology, ... OMIM:133540
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Iris hypopigmentation, Obesity ORPHA:98794
Degcags Syndrome
Premature graying of hair, Hypopigmentation of the skin, Cholestasis, Low posterior hairline, Abn... OMIM:619488
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Hydrocephalus, Mitral stenosis, Splenomegaly OMIM:231005
Desmosterolosis
Hydrocephalus, Failure to thrive, Ventriculomegaly, Splenomegaly ORPHA:35107
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Hydrocephalus, Hypertension, Decreased body weight, Prematur... OMIM:602535
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Hydrocephalus, Tremor, Encephalocele ORPHA:220493
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Plaa-Associated Neurodevelopmental Disorder
Hirsutism, Exaggerated startle response, Failure to thrive, Dystonia, Ventriculomegaly ORPHA:521426
Vici Syndrome
Congestive heart failure, Neutropenia, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation... OMIM:242840
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Congestive heart failure, Irregular menstruation, Pulmonary arterial hypertension OMIM:616482
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Resting tremor, Fulminant hepatitis, Hypotension, Leukocytosis, Leukope... ORPHA:319213
Dural Sinus Malformation
Cerebellar hemorrhage, Hydrocephalus, Subarachnoid hemorrhage, Cerebral hemorrhage, Intracranial ... ORPHA:97339
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Obesity, Type II diabetes mellitus, Hypogonadism, Hypogonadotro... ORPHA:54595
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Hajdu-Cheney Syndrome
Hepatomegaly, Hydrocephalus, Synophrys, Aortic valve stenosis, Failure to thrive, Abnormal finger... ORPHA:955
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Hydrocephalus, Reticulocytopenia, Hypergonadotropic hypog... OMIM:227646
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Synophrys ORPHA:238769
Dubowitz Syndrome
Anemia, Spina bifida occulta, Hydrocephalus, Sparse scalp hair, Sparse lateral eyebrow, Abnormali... ORPHA:235
Neuroleptic Malignant Syndrome
Thrombocytosis, Oculogyric crisis, Bradycardia, Hypertension, Tremor, Hypotension, Hypertensive c... ORPHA:94093
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Encephalitis Lethargica
Tremor, Increased CSF protein concentration, Bradycardia ORPHA:83600
Microphthalmia, Syndromic 9
Pulmonic stenosis, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Asparagine Synthetase Deficiency
Tremor, Dilated third ventricle, Exaggerated startle response, Dilated fourth ventricle, Failure ... OMIM:615574
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Hypoplastic nipples, Myelomeningocele, Spina bifida ORPHA:2437
Glycine Encephalopathy With Normal Serum Glycine
Ventriculomegaly, Exaggerated startle response, Long eyelashes OMIM:617301
Multiple Mitochondrial Dysfunctions Syndrome 7
Exaggerated startle response, Increased CSF glycine concentration, Dystonia, Hyperglycemia, Throm... OMIM:620423
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hydrocephalus, Megaloblastic anemia, Hypoglycemia, Pulmonary arterial hypertension, Fai... ORPHA:79282
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Hypertension, Melanocytic nevus OMIM:616914
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, High-output congestive heart failure, Hydrocephalus, Abnormality of the... ORPHA:137667
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Ventriculomegaly, Hirsutism, Exaggerated startle response OMIM:617527
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Facial hirsutism, Hydranencephaly ORPHA:2839
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity, Anemia OMIM:617244
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Long eyelashes OMIM:618476
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive OMIM:612940
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Ventriculomegaly, Small for gestatio... OMIM:257300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Cachexia, Spontaneous, recurrent epistaxis, ... ORPHA:2072
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hydrocephalus, Abnormality of hair texture, Tremor, Pulmon... ORPHA:667
Hemangioblastoma
Hydrocephalus ORPHA:252054
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Hypoglycemia, Thick eyebrow, Telangiectasia of the skin OMIM:616007
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Chordee, Colpocephaly... OMIM:309801
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Hirsutism, Encephalocele OMIM:224400
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Cystic liver diseas... OMIM:612284
Fanconi Anemia
Hypopigmented skin patches, Irregular hyperpigmentation, Anemia, Azoospermia, Hydrocephalus, Decr... ORPHA:84
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Hypogonadism, Melanocytic nevus, Blue irides, Small for gestational age, Irregular... OMIM:101800
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Tremor, Splenic inf... ORPHA:355
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Head titubation, Heart murmur, Ventriculomegaly, Hepatic steatosis,... OMIM:619475
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Hirsutism, Encephalocele ORPHA:1865
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus, Absent gallbladder, Polysplenia ORPHA:1335
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Anencephaly, Periportal fibrosis, Hydrocephalus, Hypoplastic nipples, Holoprosencep... OMIM:269860
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Male hypogonadism, Hypopigmentation of hair, Hypopigmentation of ... OMIM:219800
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Hydrocephalus, Encephalocele ORPHA:2318
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Orofaciodigital Syndrome I
Hydrocephalus, Hypertension, Myelomeningocele, Sparse hair, Hepatic cysts, Hepatic fibrosis, Panc... OMIM:311200
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Hydrocephalus, Spina bifida, Synophrys, Low anterior hairline OMIM:613776
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Koolen-De Vries Syndrome
Ventriculomegaly, Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Bradycardia, Capillary leak, Neutrophilia in presence of... ORPHA:99826
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Dandy-Walker malformation, Athetosis, Iris hypopigmentation, Oc... ORPHA:2719
Beare-Stevenson Cutis Gyrata Syndrome
Hypoplastic fingernail, Small nail, Hydrocephalus, Hypertension, Ventriculomegaly OMIM:123790
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hepatomegaly, Biliary atresia, Hydrocephalus, Myelomeningocele, Asplenia, Pu... OMIM:306955
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response OMIM:616881
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Linear hyperpigmentation, Alopecia OMIM:613001
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Cholelithiasis, Bradycardia, Dandy-Walker malformatio... ORPHA:97297
Complete Androgen Insensitivity Syndrome
Male infertility, Absent pubic hair, Absent axillary hair, Sparse pubic hair, Sparse axillary hai... ORPHA:99429
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Weight loss, Bradycardia ORPHA:221098
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Cafe-a... OMIM:227650
Tay-Sachs Disease
Tremor, Exaggerated startle response, Dystonia, Ventriculomegaly, Laryngeal dystonia ORPHA:845
Genitopalatocardiac Syndrome
Hydrocephalus, Abnormality of the gallbladder, Abnormal mesentery morphology ORPHA:2075
Lateral Meningocele Syndrome
Hydrocephalus, Coarse hair, Meningocele OMIM:130720
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphadenopathy, Hydrocephalus, Abnormality of the lymphatic system,... ORPHA:538
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
7Q11.23 Microduplication Syndrome
Hydrocephalus, Long eyelashes, Aortic valve stenosis, Horizontal eyebrow, Obesity, Cafe-au-lait s... ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Absent pubic hair, Hypertension, Absent axillary hair, Failure to thrive, Prima... ORPHA:90793
Distal Triplication 15Q
Hydrocephalus, Large for gestational age, Dandy-Walker malformation ORPHA:314588
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Subarachnoid h... ORPHA:2356
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Dystonia, Torticollis, Lateral ventricle dilatation ORPHA:300570
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response OMIM:617864
Joubert Syndrome 2
Hydrocephalus, Failure to thrive, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Blotching pigmentation of the skin OMIM:614653
Arachnoiditis
Hydrocephalus ORPHA:137817
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Hypertension ORPHA:87
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Abnormality of the nail, Hydrocephalus... ORPHA:2556
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Failure to thrive, Hematochezia, Lateral ventricle dilata... OMIM:619575
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Cardiomyopathy, Hypopigmentation of the skin, Spina bifida, Pulmonic stenosis, Caf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Cardiomyopathy, Hypopigmentation of the skin, Spina bifida, Pulmonic stenosis, Caf... ORPHA:363958
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Lymphangioma, Abnormal hair morphology ORPHA:1571
Meckel Syndrome
Anencephaly, Encephalocele, Accessory spleen, Hydrocephalus, Dandy-Walker malformation, Asplenia,... ORPHA:564
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Tricuspid regurgitation, Pulmonary arterial hypertensio... ORPHA:314585
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, High anterior hairline, Hydrocephalus, Synophrys, Failure to thrive, Thick e... OMIM:619512
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage, Intention tremor ORPHA:616
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Hydrocephalus, Splenomegaly, Lateral ventricle dilatation OMIM:612301
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia, Communicating hydrocephalus ORPHA:2268
Pseudoaminopterin Syndrome
Fatigable weakness, Highly arched eyebrow, Hydrocephalus, Sparse scalp hair, Asplenia, Frontal up... ORPHA:221120
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Thick eyebrow, Low posterior hairline OMIM:245600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Jacobsen Syndrome
Annular pancreas, Hydrocephalus, Abnormal eyelash morphology, Failure to thrive, Holoprosencephal... OMIM:147791
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Opitz-Kaveggia Syndrome
Hydrocephalus, Frontal upsweep of hair, Fine hair, Sparse hair OMIM:305450
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Brittle Cornea Syndrome
Pulmonic stenosis, Abnormality of hair pigmentation ORPHA:90354
Aymé-Gripp Syndrome
Breast hypoplasia, Hydrocephalus, Sparse scalp hair, Long eyelashes, Pericarditis, Ventriculomegaly ORPHA:1272
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
22Q11.2 Deletion Syndrome
Hypopigmented skin patches, Corneal neovascularization, Gastrointestinal hemorrhage, Cholelithias... ORPHA:567
Cryptococcosis
Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Lymphoid leukemia ORPHA:1546
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:617403
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Exaggerated startle response OMIM:620451
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Communicating hydrocephalus, Hepatosplenomegaly, Stomatoc... ORPHA:168577
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hydrocephalus, Aplasia/Hypoplasia of the nails, Thrombocytopenia, Intracranial hemorrhage... ORPHA:163979
Illum Syndrome
Bradycardia OMIM:208155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Hyp... OMIM:270400
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Trisomy 8P
Annular pancreas, Hydrocephalus, Dandy-Walker malformation, Heterochromia iridis, Low posterior h... ORPHA:264450
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Accessory spleen, Hydrocephalus, Dandy-Walker malformation,... OMIM:249000
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Male infertility, Azoospermia, Insulin insensitivity, Male ... ORPHA:90797
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Intraventricular hemorrhage, Ventriculomegaly OMIM:613603
Cousin Syndrome
Hydrocephalus, Low anterior hairline, Facial hirsutism, Hydranencephaly OMIM:260660
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Fontaine Progeroid Syndrome
Small nail, Hydrocephalus, Hypoplastic nipples, Sparse scalp hair, Pulmonary arterial hypertensio... OMIM:612289
Stromme Syndrome
Hydrocephalus, Accessory spleen OMIM:243605
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:395
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism, Heterochromia iridis, Hydrocephalus ORPHA:3205
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Splenic cyst, Communicating hydrocephalus OMIM:618188
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Prolonged neonatal jaundice, ... ORPHA:565
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Hypertension, Hirsutism, Oligozoospermia, Primary amenorrhea, Decreased fertility ORPHA:95699
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Neurofibromatosis Type 1
Hypopigmented skin patches, Inguinal freckling, Hydrocephalus, Abnormal hair quantity, Chronic my... ORPHA:636
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Crouzon Syndrome
Hydrocephalus OMIM:123500
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Cachexia, Hydrocephalus ORPHA:220295
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Sparse eyelashes, Sparse eyebrow, Ventri... OMIM:605627
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Hajdu-Cheney Syndrome
Hydrocephalus, Hirsutism, Synophrys, Long eyelashes, Failure to thrive, Short nail, Thick eyebrow OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Wiedemann-Rautenstrauch Syndrome
Alopecia of scalp, Broad eyebrow, Small nail, Hydrocephalus, Dandy-Walker malformation, Absent ey... OMIM:264090
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Generalized hypopigmentation, Hypoplasia of the ovary, Leukocytosis, Abdominal obe... OMIM:619321
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Highly arched eyebrow, Communicating hydrocephalus, Hepatospl... ORPHA:309282
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurofibromatosis, Type I
Inguinal freckling, Aqueductal stenosis, Hydrocephalus, Hypertension, Multiple cafe-au-lait spots... OMIM:162200
Cutis Laxa, Autosomal Recessive, Type Iic
Right bundle branch block, Decreased body weight, Aortic regurgitation, Tricuspid regurgitation OMIM:617402
Desmosterolosis
Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:602398
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Bradycardia ORPHA:90673
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism, Melanocytic nevus ORPHA:377
Mucopolysaccharidosis Type 2
Hepatomegaly, Hypertension, Cardiomyopathy, Communicating hydrocephalus, Abnormality of retinal p... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Prolonged neonatal jaundice, Bradycardia ORPHA:90674
Otopalatodigital Syndrome Type 2
Hydrocephalus, Failure to thrive, Encephalocele, Myelomeningocele ORPHA:90652
Kabuki Syndrome
Highly arched eyebrow, Hydrocephalus, Long eyelashes, Sparse lateral eyebrow, Failure to thrive, ... ORPHA:2322
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Ridged nail, Linear hyperpigmentation, Brittle hair, Hydrocephalu... OMIM:305600
Fanconi Anemia, Complementation Group L
Cafe-au-lait spot, Bone marrow hypocellularity, Anemia, Hydrocephalus OMIM:614083
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Failure to thrive, Spotty hypopi... ORPHA:401973
Meningioma
Hydrocephalus, Impotence, Obesity, Cerebral hemorrhage, Syncope, Amenorrhea, Hypogonadotropic hyp... ORPHA:2495
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Failure to thrive, Spotty hypopi... OMIM:300960
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Hirsutism, Tremor, Sparse scalp hair, Synophrys, Pulmonic stenosis, Failure to thr... ORPHA:3455
Neurooculorenal Syndrome
Aqueductal stenosis, Highly arched eyebrow, Hydrocephalus, Recurrent hypoglycemia, Ventriculomegaly OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hydrocephalus, Hypertension, Sparse scalp hair, Sparse eyelashes, Failure to thrive, Sparse eyebr... OMIM:210710
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Annular pancreas OMIM:618162
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosen... OMIM:610828
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Prolonged neonatal jaundice, Hypoglycemia, Overweight, Hypogonadotropic hypogonadism ORPHA:226307
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Sparse scalp hair, Synophrys, Sparse lateral eyebrow, Long eyelashes, Spar... OMIM:619841
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Bradycardia, Abnormality of the nail, Failure to thrive, Anonychia, Dilat... ORPHA:79404
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Torticollis ORPHA:536467
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Failure to thrive ORPHA:250989
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Shprintzen-Goldberg Syndrome
Failure to thrive, Ventriculomegaly, Mitral regurgitation, Communicating hydrocephalus ORPHA:2462
Monosomy 9Q22.3
Hydrocephalus, Large for gestational age, Ventriculomegaly ORPHA:77301
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Raine Syndrome
Highly arched eyebrow, Hydrocephalus OMIM:259775
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Prolonged... OMIM:619534
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Tetrasomy 9P
Jaundice, Biliary atresia, Hydrocephalus, Dandy-Walker malformation, Pilomatrixoma, Infertility, ... ORPHA:3310
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Achondroplasia
Hydrocephalus OMIM:100800
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Yellow Fever
Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S... ORPHA:99829
Lhermitte-Duclos Disease
Hydrocephalus, Trichilemmoma ORPHA:65285
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Neonatal hypoglycemia, Broad eyebrow, Communicating hydrocephalus, Sle... ORPHA:457359
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Failure to thrive, Spina bifida occulta OMIM:300373
Isotretinoin-Like Syndrome
Aortic valve stenosis, Hydrocephalus ORPHA:2306
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Limb dystonia, Failure to thrive, Abnormal heart rate variability ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Limb dystonia, Failure to thrive, Abnormal heart rate variability ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Limb dystonia, Failure to thrive, Abnormal heart rate variability ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Limb dystonia, Failure to thrive, Abnormal heart rate variability ORPHA:220386
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Wolf-Hirschhorn Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Hydrocephalus, Accessory spleen, Low posterior ha... OMIM:194190
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism, Intracranial hemorrhage ORPHA:91350
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Low posterior hairline, Tricuspid regurgitation, Hypoplastic toenails ORPHA:261337
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Fraser Syndrome 1
Encephalocele, Small nail, Hydrocephalus, Absent eyelashes, Myelomeningocele, Absent eyebrow, Ext... OMIM:219000
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Hypopigmentation of hair, Abnormal eyelash morphology, Holoprosen... ORPHA:818
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Abnormal hair whorl ORPHA:457284
Osteogenesis Imperfecta
Aortic regurgitation, Hydrocephalus, Thrombocytopenia, Cerebral hemorrhage, Noncommunicating hydr... ORPHA:666
Yunis-Varon Syndrome
Severe failure to thrive, Hydrocephalus, Hypertension, Cardiomyopathy, Sparse scalp hair, Pulmona... ORPHA:3472
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Sparse lower eyelashes, Absent lower eyelashes OMIM:154400
Tuberous Sclerosis Complex
Subependymal nodules, Hypertension, Internal hemorrhage, Noncommunicating hydrocephalus, Hepatic ... ORPHA:805
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hydrocephalus, Cardiomyopathy, Polysplenia, Pulmonic stenosis, Short nail, Splenome... OMIM:312870
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Biliary cirrhosis, Failure to thrive, He... OMIM:219700
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hypoplastic toenails ORPHA:268249
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Hypoplastic fingernail, Hypogonadism, Hyperconvex fingernails ORPHA:2658
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response, Lateral ventricle dilatation OMIM:618367
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Failure to thrive, Short nail, Spinal dysraphism OMIM:114290
Coffin-Siris Syndrome 12
High anterior hairline, Small nail, Highly arched eyebrow, Sparse scalp hair, Long eyelashes, Syn... OMIM:619325
Kabuki Syndrome 1
Highly arched eyebrow, Hydrocephalus, Hirsutism, Cafe-au-lait spot, Sparse eyebrow, Lateral ventr... OMIM:147920
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Sparse eyebrow, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Hydrocephalus, Synophrys, Hypogonadism, Anonychia ORPHA:3042
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, ... ORPHA:2369
Marden-Walker Syndrome
Hydrocephalus, Failure to thrive ORPHA:2461
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Microphthalmia With Limb Anomalies
Hydrocephalus, Failure to thrive, Abnormal eyebrow morphology ORPHA:1106
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy, Hyperpigmentation of the skin ORPHA:637
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Noncompaction cardiomyopathy, Synophrys, Horizontal eyebrow, Obesity, Abnormality ... OMIM:607872
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Decreased body weight, Failure to ... OMIM:616462
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Hydrocephalus, Retinal hemorrhage, Limb dystonia, Dy... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cafe-au-lait s... ORPHA:363700
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Tetraamelia Syndrome 1
Hydrocephalus, Asplenia OMIM:273395
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Peters-Plus Syndrome
Bilobate gallbladder, Hydrocephalus, Decreased body weight, Pulmonic stenosis, Biliary tract abno... OMIM:261540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
High anterior hairline, Anemia, Exaggerated startle response, Pulmonic stenosis, Dystonia ORPHA:438213
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Spina bifida, Pulmonary arterial h... OMIM:614437
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
Baller-Gerold Syndrome
Hydrocephalus, Anomalous splenoportal venous system, Spina bifida occulta OMIM:218600
Peters Plus Syndrome
Pulmonic stenosis, Ventriculomegaly, Spina bifida occulta, Hydrocephalus ORPHA:709
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Small for gestational age OMIM:208150
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hydrocephalus, Cafe-au-lait spot, Biliary tract abnormality, Sparse hair, Front... OMIM:268300
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Accessory spleen, Anencephaly, Severe hydrocephalus OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Exstrophy-Epispadias Complex
Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida ORPHA:322
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Exaggerated startle response, Hypoplastic toenails OMIM:619522
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida, Widow's peak OMIM:304120
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Small for gestational age OMIM:107480
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele 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 entity term germ cell defect Pcm1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Pcm1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Pcm1em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Pcm1em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Pcm1em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia 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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