Gene Summary

pericentriolar material 1
2600002H09Rik,  C030044G17Rik,  9430077F19Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal coat/hair pigmentation Pcm1em1(IMPC)Tcp HOM   Early adult 3.20×10-06
decreased body length Pcm1em1(IMPC)Tcp HOM Early adult 2.19×10-18
prolonged QRS complex duration Pcm1em1(IMPC)Tcp HOM   Early adult 2.54×10-06
male infertility Pcm1em1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Pcm1em1(IMPC)Tcp HOM Early adult 6.39×10-08
impaired glucose tolerance Pcm1em1(IMPC)Tcp HOM Early adult 6.31×10-06
small spleen Pcm1em1(IMPC)Tcp HOM Early adult 0.00
prolonged RR interval Pcm1em1(IMPC)Tcp HOM Early adult 8.42×10-05
abnormal skin morphology Pcm1em1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Pcm1em1(IMPC)Tcp HOM   Early adult 0.00
decreased prepulse inhibition Pcm1em1(IMPC)Tcp HOM Early adult 9.51×10-06
increased mean corpuscular hemoglobin Pcm1em1(IMPC)Tcp HOM   Early adult 1.58×10-05
decreased lean body mass Pcm1em1(IMPC)Tcp HOM Early adult 6.33×10-05
decreased spleen weight Pcm1em1(IMPC)Tcp HOM   Early adult 7.44×10-05
hydrocephaly Pcm1em1(IMPC)Tcp HOM Early adult 0.00
abnormal cranium morphology Pcm1em1(IMPC)Tcp HOM Early adult 7.14×10-07

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

97 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

18 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


9 Images



9 Images


XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Pcm1 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... ORPHA:1008
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension, Hydrocephalus OMIM:166990
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydrocephalus, Increased CSF protein ORPHA:251912
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Prolonged QT interval, Atrioventricular block,... ORPHA:398124
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Vacuolated lymphocytes, Hypopigmentation of the skin, Splenomega... OMIM:269920
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Diabetes mellitus, Hypertension, ... ORPHA:563
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Hyperpigmentation of the s... OMIM:606069
Multiple cafe-au-lait spots, Type II diabetes mellitus, Failure to thrive, Telangiectasia of the ... ORPHA:100
Griscelli Syndrome
Hypopigmented skin patches, Hepatomegaly, Leukopenia, Silver-gray hair, Lymphadenopathy, White ha... ORPHA:381
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ventriculomegaly, Fatigable weakne... ORPHA:206559
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Lymphadenopathy,... ORPHA:858
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Aicardi-Goutieres Syndrome 4
Hepatomegaly, CSF lymphocytic pleiocytosis, Splenomegaly, Ventriculomegaly, Hepatosplenomegaly, H... OMIM:610333
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive ... ORPHA:163596
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus, Jaundice OMIM:129850
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Failure to thrive, Palpitation... ORPHA:217607
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Absent facial hair, Hydrocephalus, Hypergonadotropic hypogon... ORPHA:2183
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of the skin, Tremor, Hypopigmentation of hair, Pr... ORPHA:33445
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Weight loss, Aortic regurgitation, Restrictive ... ORPHA:75566
Gómez-López-Hernández Syndrome
Alopecia of scalp, Hydrocephalus, Toenail dysplasia ORPHA:1532
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Amenorrhea, Azoosperm... OMIM:235200
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia, Ventriculomegaly, Tremor, Increased CSF lactate OMIM:617248
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Long eyelashes, Hydrocephalus, Ventriculomegaly OMIM:617281
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
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
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 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia, Hydrocephalus OMIM:619302
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenom... ORPHA:231226
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Small nail, Hydrocephalus OMIM:619470
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ve... OMIM:615630
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Hyperpigmentation of the skin, Splenomegaly, Hypersp... ORPHA:231214
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... OMIM:609637
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Hyperglycorrhachia, Syncope, Hypertension, Hyperglycemia, ST s... ORPHA:90065
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Mental Retardation, Buenos Aires Type
Blue irides, Intrahepatic biliary atresia, Failure to thrive, Curly eyelashes, Long eyelashes, Hy... OMIM:249630
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Cholestasis, Ob... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Cholestasis, Ob... ORPHA:71526
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus ORPHA:250994
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Pericarditis, Generalized hyper... ORPHA:3452
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hydrocephalus, ... OMIM:616222
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrioventricular block, Left bundle branch bl... OMIM:115197
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Brady... OMIM:614407
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation... ORPHA:79477
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Failure to thrive, Bradycardia, Hepatic steatosis, Congestive heart f... OMIM:619048
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... OMIM:214500
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Hydrocephalus, Few ... ORPHA:254516
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Central Precocious Puberty
Abnormality of secondary sexual hair, Hydrocephalus, Obesity, Increased body weight, Cafe-au-lait... ORPHA:759
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Low posterior hairline, Sparse scalp hair, Pulmonic stenosis, Hydroc... ORPHA:2701
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... OMIM:616201
Mirage Syndrome
Intracranial hemorrhage, Hypoglycemia, Leukopenia, Anemia, Hydrocephalus, Lymphopenia, Hypergonad... OMIM:617053
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Failure to thrive, Hepatic steatosis, Increased CSF lactate, Congest... ORPHA:70472
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Fried Syndrome
Hydrocephalus ORPHA:85335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Classic Galactosemia
Postural tremor, Secondary amenorrhea, Hepatomegaly, Hypoglycemia, Oligomenorrhea, Male infertili... ORPHA:79239
H Syndrome
Facial telangiectasia, Hypertrichosis, Amenorrhea, Azoospermia, Lymphadenopathy, Hyperpigmentatio... ORPHA:168569
Stiff-Person Syndrome
Hypertension, Opisthotonus, Anemia, Tachycardia, Vitiligo, Exaggerated startle response, Diabetes... OMIM:184850
Hydrocephalus OMIM:148800
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Edinburgh Malformation Syndrome
Hirsutism, Failure to thrive, Brushfield spots, Hydrocephalus, Generalized hirsutism, Low posteri... ORPHA:1895
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:304340
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Priapism, Cardiac... ORPHA:466677
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Failu... ORPHA:99106
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Atrial fibrillation, Failure to thrive, Atrioventricular block, Ventr... ORPHA:137675
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Complete Atrioventricular Septal Defect
Right ventricular failure, Hepatomegaly, Left-to-right shunt, Abnormal P wave, Systolic heart mur... ORPHA:1329
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613154
Hydrocephalus OMIM:100800
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus ORPHA:1672
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hypoglycemic seizures, Cholestasis, Red hair OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, Hypo... ORPHA:177910
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Meningocele, Abnormal hair morphology, White hair, White eyelashes, H... ORPHA:894
Krabbe Disease
Failure to thrive, Autoimmune thrombocytopenia, Hydrocephalus, Increased CSF protein OMIM:245200
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Hydrocephalus, Ventriculomegaly OMIM:602501
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hirsutism, Hydrocephalus, Ventriculomegaly OMIM:175700
Acquired Hypertrichosis Lanuginosa
Fine hair, Lymphadenopathy, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypo... ORPHA:2221
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Failure to thriv... ORPHA:2169
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Hydrocephalus, Extram... OMIM:259720
Pearson Syndrome
Neutropenia, Cardiac conduction abnormality, Hyperpigmentation of the skin, Splenomegaly, Diabete... ORPHA:699
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Hydrocephalus OMIM:619111
Adams-Oliver Syndrome
Sparse hair, Leukopenia, Congenital hepatic fibrosis, Failure to thrive, Alopecia, Pulmonary arte... ORPHA:974
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand tremor, Hydrocephalus ORPHA:99947
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Ventriculomegaly, Hydrocephalus, Choles... OMIM:614576
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hirsutism, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Failure ... OMIM:613327
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, Ventriculomegaly, Hydrocephalus... ORPHA:60040
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... ORPHA:99827
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Atriovent... OMIM:212138
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Freckling, Bundle branch block, Melanocytic nevus, Pulmonic stenosis... ORPHA:500
Congenital Sialidosis Type 2
Hepatomegaly, Telangiectasia, Hepatosplenomegaly, Generalized hypertrichosis, Hydrocephalus, Abno... ORPHA:93400
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:324416
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Diabetes mellitus, Obesity, Fair hair, Red hair OMIM:614613
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly ORPHA:272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Premature graying of hair, Anem... ORPHA:3322
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Hydrocephalus, Pancytopenia, Thrombocytopenia OMIM:259700
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long eyelashes, Hydrocephalus, Ventriculomegaly OMIM:618577
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, White hair, Hypochromic anemia, Hydrocephalus, Iris hypopigmentation, Abnormalit... ORPHA:2720
Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdominal situs, Hydrocephalus, ... ORPHA:1666
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Communicating hydrocephalus, Hypochromic microcytic anemia, Schistocytosis, Br... OMIM:616084
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Ventriculomegaly, Female infertility, Male infertility, Hydroc... ORPHA:244
Tenorio Syndrome
Syncope, Hypertrichosis, Hypoglycemia, Raynaud phenomenon, Ventriculomegaly, Thick eyebrow, Hydro... OMIM:616260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus, Premature ovarian insufficiency, Ar... OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613153
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Hypertrichosis, Leukopenia, Mit... ORPHA:505248
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Familial Male-Limited Precocious Puberty
Oligospermia, Abnormal hair morphology, Male infertility ORPHA:3000
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal... ORPHA:391673
Juvenile Dermatomyositis
Pericarditis, Weight loss, Alopecia, Telangiectasia of the skin, Cardiomyopathy, Bundle branch bl... ORPHA:93672
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Bradycardia, Decreased CSF glutamine concentration, Dilation ... OMIM:610015
Optic Pathway Glioma
Hydrocephalus, Fatigable weakness ORPHA:2086
Popov-Chang syndrome
Hypertension, Failure to thrive, Coarse hair, Pulmonic stenosis, Hydrocephalus, Lymphopenia OMIM:618428
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Hydrocephalus OMIM:613776
Nasu-Hakola Disease
Hydrocephalus, Acute leukemia, Ventriculomegaly ORPHA:2770
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Failure to thrive, Pe... OMIM:612561
Dandy-Walker malformation, Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus ORPHA:79332
Hurler Syndrome
Hepatomegaly, Hirsutism, Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Splenomegaly... OMIM:607014
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... ORPHA:99104
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Mental Retardation, Autosomal Dominant 35
Hypoglycemia, Hydrocephalus, Ventriculomegaly OMIM:616355
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypertrichosis, Hydrocephalus, Right bundle branch block OMIM:618590
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Coarse hair, Splenomegaly, Thick eyebrow, Hydr... ORPHA:585
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly, Abnormal hair whorl OMIM:616362
Joubert Syndrome 14
Dandy-Walker malformation, Highly arched eyebrow, Hypertension, Hydrocephalus OMIM:614424
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hydrocephalus, Hypermelanotic macule ORPHA:53271
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus, Numerous congenital melanocyt... OMIM:249400
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Pulmonic stenosis, Hydrocephalus, Low posterior hairline, Aortic valve... OMIM:220210
Albers-Schönberg Osteopetrosis
Anemia, Hydrocephalus, Abnormal leukocyte morphology ORPHA:53
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Lissencephaly 5
Hydrocephalus OMIM:615191
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Paroxysmal supraventricular tachycardia, Nail dystrophy, Absent eyebrow, Sparse... OMIM:601375
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dandy-Walker malformation, Highly arched eyebrow, Mitral regurgitation, Failure to thrive, Freckl... OMIM:617506
Chédiak-Higashi Syndrome
Neutropenia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Iris hypopigmentation, Pancytopen... ORPHA:167
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the eyebrow ORPHA:98791
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Hydrocephalus ORPHA:171839
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Mend Syndrome
Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus OMIM:300960
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Bresek Syndrome
Neonatal death, Alopecia, Hydrocephalus ORPHA:85284
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Hepatic fibrosis, Small for gestati... ORPHA:84064
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Hypertrichosis, Splenomegaly, Hydrocephalus, C... OMIM:309900
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Hydrocephalus OMIM:612940
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Sheehan Syndrome
Oligomenorrhea, Hypoglycemia, Amenorrhea, Sparse axillary hair, Orthostatic hypotension, Palpitat... ORPHA:91355
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Obesity, Hydrocephalus ORPHA:2180
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block, Intention tremor, Insulin resistance OMIM:619322
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Tricuspid regurgitation, Abnormal atrioventricu... ORPHA:439
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Highly arched eyebrow, Intrahepatic biliary atresia, Congenital hepatic fibrosis, N... ORPHA:1454
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Emanuel Syndrome
Dandy-Walker malformation, Infertility, Failure to thrive, Ventriculomegaly, Hypogonadism, Pulmon... ORPHA:96170
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Failure to thrive, Hyperpigmentation of the skin, Absent eyebrow, Ab... OMIM:115150
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Ventriculomegaly, Thrombocytopenia OMIM:617397
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Hypertension, Lymphadenopathy, Weight loss, Anemia, Abnormality of th... ORPHA:85450
Nestor-Guillermo Progeria Syndrome
Hypertension, Sparse eyelashes, Mitral regurgitation, Failure to thrive, Nail dystrophy, Alopecia... OMIM:614008
Simpson-Golabi-Behmel Syndrome
Dandy-Walker malformation, Hepatomegaly, Small nail, Hypoglycemia, Prolonged QT interval, Hepatob... ORPHA:373
Functioning Gonadotropic Adenoma
Oligospermia, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Abnormality of the m... ORPHA:91348
Crouzon Disease
Hypopigmented skin patches, Hydrocephalus, Melanocytic nevus ORPHA:207
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Hirsutism, Coarse hair, Cardiomyopathy, Splenomegaly, Thick eyebrow, Hydrocephalus OMIM:253220
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, ... OMIM:619272
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Ventriculomegaly ORPHA:93274
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Melanocytic nevus ORPHA:377
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Irregular hy... ORPHA:2969
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Bradycardia OMIM:601005
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity, Hydrocephalus OMIM:601794
Prader-Willi Syndrome
Failure to thrive in infancy, Infertility, Type II diabetes mellitus, Oligomenorrhea, Generalized... OMIM:176270
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Mitral regurgitation, Right bundle branch block OMIM:619576
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Small nail, Failure to thrive, Hydrocepha... OMIM:612938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Mucopolysaccharidosis Type 3
Hepatomegaly, Pigmentary retinopathy, Hirsutism, Reduced ejection fraction, Atrioventricular bloc... ORPHA:581
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Small for gestational age, Normochromic anemia, Alopecia totalis, Ch... OMIM:618775
Cardiofaciocutaneous Syndrome
Fine hair, Hypertrophic cardiomyopathy, Failure to thrive in infancy, Dystrophic fingernails, Gen... ORPHA:1340
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Opisthotonus OMIM:250800
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Decreased body weight, Hydrocephalus, Cholelithiasis OMIM:614886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:615287
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Sparse eyebrow, Hydrocephalus, Hypoplastic toenails, Sparse scalp hair... ORPHA:459061
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Hurler Syndrome
Hepatomegaly, Hypertension, Abnormality of skin pigmentation, Abnormality of the tonsils, Cardiom... ORPHA:93473
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Small nail, Anencephaly, Holoprosencephaly, Hydrocephalus, Abnormal fingernail morph... ORPHA:1908
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Type II diabetes mellitus, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... ORPHA:398079
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... ORPHA:324
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Dandy-Walker malformation, Alopecia, Ventriculomegaly, Hydrocephalus,... ORPHA:1647
Bloom Syndrome
Oligospermia, Telangiectasia, Acute lymphoblastic leukemia, Sparse eyelashes, Abnormal proportion... ORPHA:125
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Small for gestational age, Anemia, Tachycardia, Bradycar... ORPHA:90051
Williams-Beuren Region Duplication Syndrome
Long eyelashes, Hydrocephalus, Horizontal eyebrow, Ventriculomegaly OMIM:609757
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... ORPHA:437572
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Hirsutism, Cardiomyopathy, Splenomegaly, Hydrocephalus OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Cardiomyopathy, Heart block, Ventr... ORPHA:228308
Fanconi Anemia, Complementation Group L
Anemia, Bone marrow hypocellularity, Hydrocephalus, Cafe-au-lait spot OMIM:614083
Alexander Disease
Hypertension, Hyperpigmented nevi, Failure to thrive, Tremor, Hydrocephalus, Diabetes mellitus, S... ORPHA:58
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia, Large for gestational age, Mottled pigmentation ORPHA:226313
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Pulmonary arterial hypertensio... ORPHA:70591
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Low anterior hairline, Abnormality of the tonsils, Splenomegaly, Hyd... ORPHA:579
Multiple Sulfatase Deficiency
Hepatomegaly, Ventriculomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein OMIM:272200
3C Syndrome
Dandy-Walker malformation, Ventriculomegaly, Pulmonic stenosis, Hydrocephalus, Hypoplastic finger... ORPHA:7
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Hypoplasia of the ovary, Bundle... OMIM:151100
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Hepatomegaly, Abnormal eyebrow morphology, Splenomegaly, Hypogonadism... ORPHA:163746
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly OMIM:225790
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Noncommunicating hydrocephalus, Low posterior hairline, Sparse hair, Synophrys OMIM:619320
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Pericarditis, ... ORPHA:228123
Vici Syndrome
Dilated cardiomyopathy, Ocular albinism, Failure to thrive, Cardiomyopathy, Albinism, Hypopigment... OMIM:242840
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Tetrasomy 5P
Depigmentation/hyperpigmentation of skin, Failure to thrive, Pulmonary arterial hypertension, Hyd... ORPHA:3309
Chromosome 6Q24-Q25 Deletion Syndrome
Sparse eyelashes, Tricuspid regurgitation, Hydrocephalus, Dilation of lateral ventricles, Low pos... OMIM:612863
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... OMIM:619377
Meningocele, Hepatomegaly, Abnormality of the gallbladder, Holoprosencephaly, Abnormality of the ... ORPHA:3376
Dandy-Walker malformation, Abnormality of the spleen, Failure to thrive in infancy, Highly arched... ORPHA:2162
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Abnormality of skin pigmentat... OMIM:227646
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Small for gestational age ORPHA:621
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Thrombocytopenia, ... OMIM:300514
Axial Mesodermal Dysplasia Spectrum
Abnormality of the liver, Abnormality of the spleen, Hydrocephalus ORPHA:1834
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Tremor, Hydrocephalus, Pigmentary retinopat... OMIM:277400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Impotence OMIM:268800
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Male ... OMIM:227650
Trisomy 17P
Broad eyebrow, Hydrocephalus, Generalized hirsutism, High anterior hairline, Low posterior hairli... ORPHA:261290
Cockayne Syndrome A
Hepatomegaly, Hypertension, Thymic hormone decreased, Dry hair, Normal pressure hydrocephalus, Ab... OMIM:216400
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... OMIM:607361
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Abnormality of skin pigmentation, Congenital giant melanocytic nevus,... ORPHA:626
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hypertension, Opisthotonus, Bradycardia, Tachycardia, Tremor ORPHA:3299
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral stenosis, Splenomegaly, Hydrocephalus, Pancytopenia OMIM:231005
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Waardenburg Syndrome
Hypopigmented skin patches, Myelomeningocele, Abnormality of skin pigmentation, Abnormal eyebrow ... ORPHA:3440
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus OMIM:207950
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... ORPHA:1880
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Telangiectasia, Hydrocephalus, Pigmentary retinopathy, Frontal upsweep... OMIM:612582
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Squalene Synthase Deficiency
Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Generalized hypertrichosis, Hydrocephalus ORPHA:2409
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... ORPHA:98754
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Hermansky-Pudlak Syndrome
Partial albinism, Neutropenia, Ocular albinism, Weight loss, Epistaxis, Long eyelashes, Menometro... ORPHA:79430
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Cardiomyopathy, Hydrocephalus, Arr... ORPHA:157
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... ORPHA:98793
47,Xyy Syndrome
Oligospermia, Male infertility, Hydrocephalus, Azoospermia ORPHA:8
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure OMIM:616482
Androgen Insensitivity Syndrome
Sparse axillary hair, Sparse pubic hair, Male infertility, Absent pubic hair, Absent axillary hair ORPHA:754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... ORPHA:177904
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Broad nail, Short nail, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hypoglycemia, Neutropenia, Subdural hemorrhage, Failure to thrive, Megalo... ORPHA:79282
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... ORPHA:177901
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Prader-Willi Syndrome
Hypertension, Infertility, Failure to thrive, Hypopigmentation of the skin, Ventriculomegaly, Hyp... ORPHA:739
Degcags Syndrome
Hepatosplenomegaly, Pancytopenia, Low posterior hairline, Abnormal eyelash morphology, Premature ... OMIM:619488
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus, Neonatal hypoglycemia ORPHA:447788
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Type II diabetes mellitus, Failure to thrive, Hypopigmentation of the skin, Ventricu... ORPHA:398069
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
Aromatase Deficiency
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Female infer... ORPHA:91
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Cachexia, Hepatic fibrosis, Azoospermia, Pulmonary arterial hypertensi... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Abnormality of the pancreas ORPHA:1926
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Dubowitz Syndrome
Fine hair, Acute lymphoblastic leukemia, Low anterior hairline, Abnormality of skin pigmentation,... ORPHA:235
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Obesity, HbH hemoglobin, Super... OMIM:141750
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Anemia, Abnormality of hair textu... ORPHA:667
Cockayne Syndrome B
Hepatomegaly, Hypertension, Abnormal hair morphology, Dry hair, Small for gestational age, Normal... OMIM:133540
Fg Syndrome Type 1