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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
small spleen Pcm1em1(IMPC)Tcp HOM Early adult 0.00
decreased lean body mass Pcm1em1(IMPC)Tcp HOM Early adult 6.53×10-05
abnormal skin morphology Pcm1em1(IMPC)Tcp HOM Early adult 0.00
prolonged RR interval Pcm1em1(IMPC)Tcp HOM Early adult 7.71×10-05
preweaning lethality, incomplete penetrance Pcm1em1(IMPC)Tcp HOM   Early adult 0.00
impaired glucose tolerance Pcm1em1(IMPC)Tcp HOM Early adult 5.00×10-06
hydrocephaly Pcm1em1(IMPC)Tcp HOM Early adult 0.00
decreased spleen weight Pcm1em1(IMPC)Tcp HOM   Early adult 7.10×10-05
abnormal cranium morphology Pcm1em1(IMPC)Tcp HOM Early adult 6.58×10-07
prolonged QRS complex duration Pcm1em1(IMPC)Tcp HOM   Early adult 2.48×10-06
abnormal coat/hair pigmentation Pcm1em1(IMPC)Tcp HOM Early adult 5.67×10-05
decreased prepulse inhibition Pcm1em1(IMPC)Tcp HOM Early adult 9.36×10-06
male infertility Pcm1em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Pcm1em1(IMPC)Tcp HOM Early adult 1.70×10-18
increased startle reflex Pcm1em1(IMPC)Tcp HOM Early adult 6.09×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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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Histopathology

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... ORPHA:1008
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Tremor, Ventriculomegaly, Kinetic tremor OMIM:611808
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus, Hypertension OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
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
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Ventriculomegaly, Dilated cardiomyopathy, Fatigable weakness of skelet... ORPHA:206559
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Edinburgh Malformation Syndrome
Failure to thrive, Jaundice, Hydrocephalus, Frontal hirsutism OMIM:129850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Hydrocephalus, Congestive heart failure, Failure to thri... OMIM:269920
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, ... OMIM:610333
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Naxos Disease
Sudden cardiac death, Sparse body hair, Sparse eyebrow, Right bundle branch block, Right ventricu... OMIM:601214
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Ventricular... ORPHA:563
Ataxia-Telangiectasia
Mucosal telangiectasiae, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II dia... ORPHA:100
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Encephalocele, Premature graying of hair, Hepatitis, Iri... ORPHA:381
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Anemia, Hydrocephalus, Thrombocytopenia, Dystonia OMIM:619302
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Long eyebrows, Intention tremor, Failure to thrive, Dystonia, Atriove... OMIM:614407
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Sparse facial hair, Azoospermia, Absent facial hair, Hypergonadotropic hypogonadis... ORPHA:2183
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Hydrocephalus, Dilated cardiomyo... ORPHA:398124
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Tremor, Hydrocephalus OMIM:619470
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Diabetes mellitus, Ventricular tachycardia, Palpitat... ORPHA:263297
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... OMIM:181350
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Hypopigme... ORPHA:33445
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly OMIM:300884
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Congenital Toxoplasmosis
Anemia, Ventriculomegaly, Jaundice, Hydrocephalus, Abnormality of retinal pigmentation, Lymphaden... ORPHA:858
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, We... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Myotonic Dystrophy 2
Right bundle branch block, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Premat... OMIM:602668
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Hydrocephalus ORPHA:1532
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Ventricular escape rhythm, Failure to thrive, Mitral re... OMIM:616201
Hemochromatosis, Type 1
Alopecia, Splenomegaly, Telangiectasia, Cirrhosis, Impotence, Azoospermia, Congestive heart failu... OMIM:235200
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Long eyelashes, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly, Brady... OMIM:619048
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus ORPHA:250994
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Synophrys, Hydrocephalus, Semilobar holoprosenceph... OMIM:609637
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Impaired glucose tolerance, Glucose intolerance, Hydrocephalu... OMIM:615630
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thriv... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thriv... ORPHA:71526
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Bradycardia, Increased CSF lactate OMIM:616277
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Impaired glucose tolerance, Ventricular bigeminy, Arrhythmia, Failure t... OMIM:610131
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Failure to thrive, Hypo... ORPHA:70472
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyperglycorrhachia, Syncope, ST segment ... ORPHA:90065
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Pettigrew Syndrome
Hydrocephalus, Choreoathetosis, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Congenital-Onset Steinert Myotonic Dystrophy
Decreased body weight, Ventriculomegaly, Bundle branch block, Obesity, First degree atrioventricu... ORPHA:589821
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Central Precocious Puberty
Abnormality of secondary sexual hair, Cafe-au-lait spot, Hydrocephalus, Obesity, Increased body w... ORPHA:759
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Hydrocep... ORPHA:137675
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Temple Syndrome
Small for gestational age, Type II diabetes mellitus, Hydrocephalus, Recurrent hypoglycemia, Few ... ORPHA:254516
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Hydrocephalus, Hypogonadism ORPHA:141333
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Hydrocephalus, Abnorm... ORPHA:2701
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Whipple Disease
Hypotension, Anemia, Cachexia, Insulin resistance, Hydrocephalus, Erectile dysfunction, Generaliz... ORPHA:3452
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin,... ORPHA:163596
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia, Ventriculomegaly OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Synophrys, Hydrocephalus, Broad eyebrow OMIM:618302
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Scorpion Envenomation
Priapism, Cardiogenic shock, Prominent U wave, T-wave inversion, Bundle branch block, Congestive ... ORPHA:466677
Fried Syndrome
Hydrocephalus ORPHA:85335
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... ORPHA:79477
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Hepatic steatosis, Premature ventricular cont... OMIM:212138
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Kleeblattschaedel
Hydrocephalus OMIM:148800
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Hydrocephalus, Failure to thrive, Hirsutism, Low posterior hairline,... ORPHA:1895
Waardenburg Syndrome Type 1
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... ORPHA:894
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Hydrocephalus, Intracranial hemorrhage, Lymphopenia, H... OMIM:617053
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Hypertension, Diabetes mellitus, Vitiligo, Opisthotonus, Ta... OMIM:184850
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypertrophic cardiomyopathy, Hypoglycemia, Failure to thrive, Dystonia... OMIM:614702
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypogonadotropic h... ORPHA:177910
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus ORPHA:1672
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Lymphadenopathy, G... ORPHA:2221
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Hand tremor, Postural tremor ORPHA:99947
H Syndrome
Alopecia, Abnormal eyebrow morphology, Facial telangiectasia, Hypogonadism, Hydrocephalus, Azoosp... ORPHA:168569
Coach Syndrome 2
Hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Congenital hepatic fibrosis OMIM:619111
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Postural tremor, Secondary amenorrhea, Premat... ORPHA:79239
Cln3 Disease
T-wave inversion, Hirsutism, Bradycardia, Pigmentary retinopathy, Vacuolated lymphocytes ORPHA:228346
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hydrocephalus, Hirsutism, Ventriculomegaly OMIM:175700
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... OMIM:614072
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Noonan Syndrome With Multiple Lentigines
Decreased fertility, Melanocytic nevus, Bundle branch block, Multiple lentigines, Spina bifida oc... ORPHA:500
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Hypogonadism, Premature ovarian insufficiency, Diabetes mellitus, Arrhythmia, Bradycardia, Cardio... OMIM:609286
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Insulin resistance, Hepatic steatosis, Failure to thrive, Prolong... OMIM:613327
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Subependymal cysts, Decreased CSF glutamine concentration, Neonatal... OMIM:610015
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Alopecia, Encephalocele, Absent fingernai... ORPHA:974
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Cerebral ischemia, Hydrocephalus, Failure to thrive, Arrhythmia, Telangiectasia... ORPHA:60040
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... ORPHA:99827
Temple Syndrome
Small for gestational age, Hydrocephalus, Maturity-onset diabetes of the young, Overweight, Trunc... OMIM:616222
Krabbe Disease
Failure to thrive, Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
B4Galt1-Cdg
Small for gestational age, Hydrocephalus, Hepatomegaly, Splenomegaly, Dandy-Walker malformation ORPHA:79332
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Hydrocephalus, Congestive heart failure, Ne... OMIM:261740
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Juvenile Dermatomyositis
Alopecia, Mucosal telangiectasiae, Weight loss, Bundle branch block, Telangiectasia of the skin, ... ORPHA:93672
Glutaric Acidemia I
Lateral ventricle dilatation, Choreoathetosis, Hydrocephalus, Failure to thrive, Hypoglycemia, He... OMIM:231670
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Long eyelashes, Ventriculomegaly OMIM:618577
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Generalized hypertrichosis, Hydrocephalus, Hepatosplenomegaly, Hepa... ORPHA:93400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Right bundle branch block, Curly hair, Cafe-au-lait spot, Sparse lateral ... OMIM:617506
Pearson Syndrome
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... ORPHA:699
Nephronophthisis 18
Cholestasis, Hydrocephalus, Hypertension, Portal fibrosis OMIM:615862
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Low anterior hairline OMIM:613153
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Ventriculomegaly, Hydrocephalus, Pancytopenia, Failure to thrive, Cholestasis, Hepatom... OMIM:614576
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Diabetes mellitus, Blue irides, Red hair, Obesity OMIM:614613
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Alexander Disease Type I
Failure to thrive, Cachexia, Hydrocephalus ORPHA:363717
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Ventriculomegaly, Failure to thrive, Increased CSF lactate, Opis... OMIM:619272
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Right bundle branch block, Pulmonary insufficiency, Intention tremor OMIM:619322
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Tenorio Syndrome
Ventriculomegaly, Raynaud phenomenon, Syncope, Hydrocephalus, Hypoglycemia, Hypoinsulinemia, Thic... OMIM:616260
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Right bundle branch block, Hypertrichosis OMIM:618590
Necrotizing Enterocolitis
Hypotension, Abnormal glucose homeostasis, Small for gestational age, Peritonitis, Shock, Leukocy... ORPHA:391673
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypoglycemia OMIM:601005
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Ventriculomegaly, Hydrocephalus, Hypertension, Pancytopenia, Failure to... ORPHA:2169
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Epistaxis, Hypoplastic spleen, Thrombocytopenia, Subarachn... OMIM:185070
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Williams-Beuren Region Duplication Syndrome
Horizontal eyebrow, Ventriculomegaly, Small for gestational age, Hydrocephalus, Long eyelashes, F... OMIM:609757
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Ventriculomegaly, Premature graying of hair, Generalized hypopigmentat... ORPHA:3322
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Adams-Oliver Syndrome 2
Alopecia, Small nail, Lateral ventricle dilatation, Hydrocephalus, Low anterior hairline OMIM:614219
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Alopecia, Sparse eyebrow, Right bundle branch block, Sparse scal... OMIM:614008
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma, Numerous congenital melanocyt... OMIM:249400
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Highly arched eyebrow OMIM:613776
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Right bundle branch block, Tricuspid regurgitation OMIM:619576
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Ventriculomegaly, Polysplenia, Hydrocephalus, Female infertili... ORPHA:244
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair ORPHA:411515
Dextrocardia
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Hydrocepha... ORPHA:1666
Optic Pathway Glioma
Fatigable weakness, Hydrocephalus ORPHA:2086
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Ventriculomegaly, Hydrocephalus, Long eyelashes, Failure to thrive... OMIM:619833
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Familial Male-Limited Precocious Puberty
Oligospermia, Abnormal hair morphology, Male infertility ORPHA:3000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Prolonged neonatal jaundice, Bradycardia, Large for gestational age ORPHA:226313
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Hydrocephalus ORPHA:171839
Nasu-Hakola Disease
Hydrocephalus, Acute leukemia, Ventriculomegaly ORPHA:2770
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Hepatomegaly, Splenome... OMIM:618541
Simpson-Golabi-Behmel Syndrome
Small nail, Bundle branch block, Polysplenia, Supernumerary nipple, Hepatoblastoma, Prolonged QT ... ORPHA:373
Sheehan Syndrome
Impotence, Decreased female libido, Sparse axillary hair, Sparse pubic hair, Normochromic anemia,... ORPHA:91355
Multiple Sulfatase Deficiency
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Coarse hair, Thick eyebrow, Spl... ORPHA:585
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hydrocephalus, Hypopigmented skin patches ORPHA:53271
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus, Frontal encephalocele ORPHA:1528
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Low posterior hairline, Aortic valve stenosis, Pulmonic stenosis, Dandy-Walker mal... OMIM:220210
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Ventriculomegaly OMIM:614120
Bresek Syndrome
Alopecia, Neonatal death, Hydrocephalus ORPHA:85284
Mucopolysaccharidosis, Type Ii
Splenomegaly, Hydrocephalus, Congestive heart failure, Abnormality of retinal pigmentation, Hepat... OMIM:309900
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathet... OMIM:608643
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Ventriculomegaly ORPHA:93274
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Hydrocephalus, Tremor, Hepatomega... ORPHA:1454
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Impotence, Decreased female libido, Infertility, Hydrocepha... ORPHA:91348
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Small nail, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Abnormal f... ORPHA:1908
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus, Hypogonadism OMIM:601794
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Brittle hair, Hydrocephalus, Multiple lentigines, Generalized ... ORPHA:1340
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Sp... OMIM:610768
Cardiofaciocutaneous Syndrome 1
Curly hair, Absent eyelashes, Pulmonic stenosis, Hydrocephalus, Multiple lentigines, Hypertrophic... OMIM:115150
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly, Abnormal hair whorl OMIM:616362
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Leukopenia, Anemia, Thick hair, Hydrocephalus, Long eyelashes, C... ORPHA:505248
Crouzon Syndrome
Hydrocephalus, Melanocytic nevus, Hypopigmented skin patches ORPHA:207
Osteopetrosis, Autosomal Recessive 1
Anemia, Hydrocephalus, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:259700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Obesity, Hydrocephalus ORPHA:2180
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Alopecia totalis, Hypertrophic cardiomyo... OMIM:618775
Tetanus
Hypertension, Tremor, Opisthotonus, Bradycardia, Tachycardia ORPHA:3299
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Hirsutism, Hepatomegaly, Coarse hair, Thick eyebrow, Splenomegaly, Cardiomyopathy OMIM:253220
Proteus-Like Syndrome
Irregular hyperpigmentation, Hydrocephalus, Communicating hydrocephalus, Heterochromia iridis, Th... ORPHA:2969
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Infertility, Hydrocephalus, Failure to thrive, Aortic valve steno... ORPHA:96170
Emanuel Syndrome
Ventriculomegaly, Torticollis, Hydrocephalus, Failure to thrive, Aortic valve stenosis, Pulmonic ... OMIM:609029
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin, Ventriculomegaly, Synophrys, Choreoathetosis, Hydrocephalus, Hirsut... OMIM:614969
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Neonatal hypoglycemia, Leg dystonia, Increased CSF lactate, Bradyca... ORPHA:565624
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Cardiomyopathy ORPHA:370959
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Melanocytic nevus ORPHA:377
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Ventriculomegaly, Hypogonadism, Type II diabetes mellitus, Infertil... ORPHA:398079
Hurler Syndrome
Enlarged tonsils, Hydrocephalus, Hepatosplenomegaly, Aortic regurgitation, Mitral regurgitation, ... OMIM:607014
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Hepatomegaly, Thrombocytopen... OMIM:617397
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Meckel Syndrome, Type 3
Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... OMIM:607361
Fabry Disease
Anemia, Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia o... ORPHA:324
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ventriculomegaly, Limb dystonia, Communicating hydrocephalus, Subependymal no... ORPHA:25
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Generalized hypo... ORPHA:84064
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Hydrocephalus, Abnormality ... ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia, Hydrocephalus, Ventriculomegaly OMIM:616355
Leopard Syndrome 1
Third degree atrioventricular block, Cafe-au-lait spot, Bundle branch block, Multiple lentigines,... OMIM:151100
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Ciliary Dyskinesia, Primary, 14
Polysplenia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Osteopetrosis, Autosomal Recessive 2
Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt... OMIM:259710
Hurler Syndrome
Abnormality of skin pigmentation, Hydrocephalus, Hypertension, Angina pectoris, Abnormality of th... ORPHA:93473
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Oculocerebrocutaneous Syndrome
Alopecia, Ventriculomegaly, Hydrocephalus, Hypopigmented skin patches, Abnormal fingernail morpho... ORPHA:1647
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Synophrys, Thin eyebrow, Low posterior hairline, Sparse hair OMIM:619320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Ventriculomegaly, Hydrocephalus, Heart block, Hepatic steatosis, Hepati... ORPHA:228308
Joubert Syndrome 14
Meningocele, Encephalocele, Hydrocephalus, Hypertension, Intracranial hemorrhage, Highly arched e... OMIM:614424
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Thick hair, Ventriculomegaly, Reduced left ventricular ejection fraction,... ORPHA:581
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Hydrocephalus, Aortic valve stenosis, Da... ORPHA:459061
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Holoprosencephaly
Spinal dysraphism, Encephalocele, Synophrys, Hydrocephalus, Diabetes mellitus, Hypoglycemia, Dyst... ORPHA:2162
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Persistent fetal circulation, Lateral ventricle dilatation, Hydroc... OMIM:612863
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Bradycardia, Opisthotonus OMIM:220120
Sepsis In Premature Infants
Hypotension, Splenomegaly, Anemia, Decreased body weight, Small for gestational age, Jaundice, He... ORPHA:90051
Chédiak-Higashi Syndrome
Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... ORPHA:167
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Hydrocephalus OMIM:613330
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Opisthotonus OMIM:207950
Alexander Disease
Sudden cardiac death, Hypotension, Aqueductal stenosis, Hyperpigmented nevi, Hydrocephalus, Hyper... ORPHA:58
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly ORPHA:309155
Sandhoff Disease
Exaggerated startle response, Impotence, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension OMIM:268800
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to thrive, Dandy-Walker... OMIM:612938
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Eisenmenger Syndrome
Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatomegaly,... ORPHA:97214
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Frontal upsweep of hair, Hydrocephalus, Pigmentary retinopathy, Dandy-Walker malf... OMIM:612582
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Triploidy
Meningocele, Abnormality of the pancreas, Abnormality of the gallbladder, Hydrocephalus, Holopros... ORPHA:3376
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hydrocephalus ORPHA:53
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Ventriculomegaly, Jaundice, Neonatal hypoglycemia, Failure to thrive, Tremor, Dyston... OMIM:617248
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Hydrocephalus, Congestive heart failure, Failure t... ORPHA:3309
Mucopolysaccharidosis Type 1
Hydrocephalus, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of the tonsils,... ORPHA:579
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Hydrocephalus, Decreased body weight, Cholelithiasis OMIM:614886
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Hypopigmentation of the skin, Ventriculomegaly, G... OMIM:176270
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Brittle hair, Sideroblastic anemia, Communicating hydrocephalus, Hypochromic m... OMIM:616084
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmented skin patches,... ORPHA:163746
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Pulmonary insufficiency, Tricuspid regurgitation, Sinus tachycar... OMIM:253200
Osteopetrosis, Autosomal Recessive 5
Anemia, Ventriculomegaly, Extramedullary hematopoiesis, Hydrocephalus, Pancytopenia, Hepatospleno... OMIM:259720
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Multiple Sulfatase Deficiency
Ventriculomegaly, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration, Splenomegaly OMIM:272200
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
3C Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplastic fingernail, Aortic valve stenosis, Pulmonic stenosis... ORPHA:7
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Hypogonadism, Weight loss, Hypertension, Congestive heart... ORPHA:85450
Coccidioidomycosis
Hypoglycorrhachia, Abnormality of the liver, Increased CSF protein concentration, Cerebral ischem... ORPHA:228123
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Trisomy 17P
High anterior hairline, Broad eyebrow, Hydrocephalus, Low posterior hairline, Aortic valve stenos... ORPHA:261290
Spermatogenic Failure 77
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia OMIM:620103
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmente... ORPHA:626
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Tremor ORPHA:79254
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Myelomeningocele, Premature grayin... ORPHA:3440
Bloom Syndrome
Acute myeloid leukemia, Hypopigmentation of the skin, Telangiectasia, Cafe-au-lait spot, Prematur... ORPHA:125
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Ventriculomegaly, Small for gestational age, Iris hypopigmentation,... ORPHA:98754
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Abnormality of the liver ORPHA:1834
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Failure to thrive in infancy OMIM:618156
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hydrocephalus, Hepatic calcification, Hepatomegaly, Arrhythmia, Cardiom... ORPHA:157
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Cockayne Syndrome A
Irregular menstruation, Dry hair, Pigmentary retinopathy, Abnormality of skin pigmentation, Ventr... OMIM:216400
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Ventriculomegaly, Small for gestational age, Iris hypopigmentation,... ORPHA:98793
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure,... OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11