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Gene: Plcb1 MGI:97613

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Gene Summary

Name:
phospholipase C, beta 1
Synonyms:
3110043I21Rik

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
enlarged kidney Plcb1em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Plcb1em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Plcb1em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Plcb1em1(IMPC)Mbp HET Late adult 0.00
hyperactivity Plcb1em1(IMPC)Mbp HET Early adult 6.43×10-14
male infertility Plcb1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Plcb1em1(IMPC)Mbp HET Late adult 0.00
abnormal vitreous body morphology Plcb1em1(IMPC)Mbp HET   Late adult 2.46×10-05
microphthalmia Plcb1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Plcb1em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Plcb1em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Plcb1em1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Plcb1em1(IMPC)Mbp HET Late adult 0.00
cataract Plcb1em1(IMPC)Mbp HET   Late adult 7.28×10-05
enlarged spleen Plcb1em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Plcb1em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Plcb1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Plcb1em1(IMPC)Mbp HET Early adult 0.00
female infertility Plcb1em1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Plcb1 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.

The table below shows human diseases associated to Plcb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181

The table below shows human diseases predicted to be associated to Plcb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
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
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Megalencephaly
Macrocephaly, Genu valgum, Prominent occiput, Long penis, Frontal bossing, Dolichocephaly, Short ... ORPHA:2477
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Codas Syndrome
Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed ossification of carpal bo... OMIM:600373
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia ORPHA:2432
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Clark-Baraitser syndrome
Macrocephaly, Genu valgum, Scoliosis, Tapered finger, Kyphosis, Frontal bossing, Obesity, Short p... OMIM:300602
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Intellectual Developmental Disorder, X-Linked 2
Short stature, Relative macrocephaly, Macroorchidism OMIM:300428
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Widely spaced toes, ... OMIM:301900
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrocephaly, Macroorchidism, Kyphoscoliosis OMIM:300886
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Achard Syndrome
Brachycephaly, Arachnodactyly, Broad skull OMIM:100700
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Short neck OMIM:168400
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Tapered finger, Macroorchidism OMIM:300706
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Weill-Marchesani Syndrome 1
Brachycephaly, Broad phalanges of the hand, Scoliosis, Broad skull, Broad metatarsal, Proportiona... OMIM:277600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macrocephaly, Macroorchidism ORPHA:85320
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis... OMIM:618728
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Agenesis of corp... OMIM:616540
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Intervertebral ... OMIM:271530
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Scoliosis, Tapered finger, Microcephaly, Short stature, Short neck, Polycysti... ORPHA:284180
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Kerion Celsi
Lymphadenopathy ORPHA:499
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra... ORPHA:858
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Macrocephaly, Sacral dimple, Kyphosis, Frontal bossin... OMIM:618272
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Atkin-Flaitz Syndrome
Short stature, Obesity, Macrocephaly, Macroorchidism ORPHA:1193
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Weill-Marchesani Syndrome 2
Brachycephaly, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... OMIM:608328
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Hypospadias, Hyperextensibility of the finger joints, 2-3 toe syndactyly, Bro... ORPHA:163979
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Colpocepha... ORPHA:250972
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Fragile X Syndrome
Macrocephaly, Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Scoliosis,... OMIM:300624
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Disproportionate short-limb short stature, Relative... OMIM:156530
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:616187
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Lujan-Fryns Syndrome
Brachycephaly, Macrocephaly, Scoliosis, Arachnodactyly, Camptodactyly of finger, Brachydactyly, M... ORPHA:776
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Scoliosis, Microcephaly, Obesity, Short neck, Male hypogonadism, Macroorchidism, ... OMIM:300055
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Progressive microcephaly, Kyphosis, Short stature, Failure to thrive, Hip dysplasia OMIM:620007
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Microcephaly, Short stature, Hip dislocation, Short foot, Small hand OMIM:300434
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentat... ORPHA:290
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Hypogonadism ORPHA:2528
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Short stature, Short thumb, Overlapping toe OMIM:618453
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
47,Xyy Syndrome
Male infertility, Macrocephaly, Finger clinodactyly, Hypospadias, Azoospermia, Oligozoospermia, V... ORPHA:8
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly OMIM:615085
Trisomy 20P
Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Kyphosis, Multiple renal cys... ORPHA:261318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Cataract, Cryptorchidism, Optic disc pallor OMIM:613730
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, Short neck, Hyperechogen... OMIM:613885
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith... OMIM:611040
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Premature pubarche, Secondary amenorrhea, Short stature, Lumbar scoliosis, Lower ... OMIM:612847
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Mental deterioration OMIM:615924
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Masa Syndrome
Macrocephaly, Hyperlordosis, Kyphosis, Microcephaly, Short stature, Adducted thumb OMIM:303350
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
17Q11.2 Microduplication Syndrome
Microcephaly, Macroorchidism, Short stature ORPHA:139474
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Microcephaly, Iliac crest serration, Metaphyseal irregularity, Genu v... OMIM:607326
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Congenital bilateral hip dislocation, Small for gestational age, Kyphosis ORPHA:85288
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Catara... ORPHA:1473
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Microcephaly, Short stature, Obesity, Lumbar hyperlordosis, Hip dislocation OMIM:616756
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Sandhoff Disease
Macrocephaly, Hepatomegaly, Kyphosis, Failure to thrive, Splenomegaly ORPHA:796
Coccidioidomycosis
Abnormality of the female genitalia, Abnormality of the kidney, Abnormal long bone morphology, Ab... ORPHA:228123
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Microcephaly, Cutaneous finger syndactyly, Short stature, Syndactyly, Aplasia/Hyp... OMIM:600384
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi... ORPHA:363741
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Decreased body weight, Kyphosis, Short stature, Brachydacty... OMIM:618392
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Obesity, Macroorchidism, Kyphoscoliosis ORPHA:3077
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Feingold Syndrome 2
Secondary microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of... OMIM:614326
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse... ORPHA:2382
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Clinodactyly... ORPHA:254516
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Cataract, Macular atrophy, Optic disc pallor OMIM:616171
Morm Syndrome
Hyperactivity, Abnormality of the kidney, Micropenis, Aggressive behavior ORPHA:75858
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Short stature, Frontal bossing, Obesity, Tapered finger ORPHA:276630
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:3085
Gombo Syndrome
Microphthalmia OMIM:233270
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Fragile X Syndrome
Frontal bossing, Scoliosis, Macrocephaly, Macroorchidism ORPHA:908
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Intervertebral s... OMIM:271630
Ruvalcaba Syndrome
Delayed puberty, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Microcephaly, Short sta... OMIM:180870
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Abnormal testis morphology, Kyphosis, Arachnodactyly, Dolichocephaly ORPHA:1548
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly, Severe intra... ORPHA:231144
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Aggressive behavior OMIM:239500
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp... OMIM:112350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom... OMIM:613313
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Cerv... ORPHA:15
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism OMIM:601794
Functioning Gonadotropic Adenoma
Delayed puberty, Decreased response to growth hormone stimulation test, Isosexual precocious pube... ORPHA:91348
Immunodeficiency 27A
Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:209950
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
O'Donnell-Luria-Rodan Syndrome
Macrocephaly, Kyphosis, Dolichocephaly, Cryptorchidism, Tapered finger OMIM:618512
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Development... ORPHA:335
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Aromatase Deficiency
Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enl... ORPHA:91
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Microcephaly, Short stature OMIM:617404
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Microcephaly, Failure to thrive, Metaphyseal dysplasia, Brach... OMIM:234250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ... ORPHA:54251
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... OMIM:618805
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Iris ... ORPHA:231736
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Abnormal metaphysis morphology, Macrocephaly, Pr... ORPHA:628
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:618141
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Cofs Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Hypogonadism, Cataract ORPHA:1466
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis, Coxa vara, Broad femoral neck, Abnormality of the epiphysis of the femoral h... ORPHA:2114
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macrocephaly, Hypospadias, Microcephaly, Short stature, Failure to thrive, Adducted thumb, Macroo... OMIM:618874
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Retinal dysplasia ORPHA:324416
Laryngeal Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Genu varum, Hip dislocat... ORPHA:93360
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Sandal gap, Relative macrocephaly, Kyphosis, Decreased testicular s... OMIM:300354
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Scoliosis, Kyphosis, Microcephaly, Neonatal death, Hip dysplasia, Short neck,... OMIM:611890
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, Turricephaly, External genital hypoplasia, Genu valgum, Finger synda... ORPHA:65759
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia, Exudative retinal detachment ORPHA:209956
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S... ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Schaaf-Yang Syndrome
Rocker bottom foot, Scoliosis, Tapered finger, Short foot, Camptodactyly, Kyphosis, Short stature... OMIM:615547
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy... OMIM:240500
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A... ORPHA:731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor OMIM:251270
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Macrocephaly... OMIM:614732
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Decreased female libido, Decr... ORPHA:91349
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level... OMIM:234500
Three M Syndrome 1
Postnatal growth retardation, Increased vertebral height, Clinodactyly of the 5th finger, Hypospa... OMIM:273750
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Trigonocephaly, Spleno... OMIM:252500
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... ORPHA:91495
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Diaphanospondylodysostosis
Enlarged kidney, Hammertoe, Lumbosacral meningocele, Nephroblastomatosis, Absent in utero ossific... OMIM:608022
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Compulsive behaviors, Hyperactivity, Motor tics OMIM:619927
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal epiphysis morpho... ORPHA:3098
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Desbuquois Dysplasia 1
Disproportionate short-limb short stature, Sandal gap, Hyperlordosis, Flat acetabular roof, Kypho... OMIM:251450
Ruvalcaba Syndrome
Delayed puberty, Hematuria, Proximal placement of thumb, Clinodactyly of the 5th finger, Abnormal... ORPHA:3121
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Kyphosis, Camptodactyly, Neonatal death, Short neck, Cryptorchidism OMIM:618393
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Glycine Encephalopathy 1
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr... OMIM:200995
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Cachexia, Scoliosi... ORPHA:85293
Kleefstra Syndrome 2
Plagiocephaly, Scoliosis, Kyphosis, Microcephaly, Growth delay OMIM:617768
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Precocious puberty, ... ORPHA:254525
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convulsive... OMIM:617106
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Platyspondyly, Hypoplastic iliac wing, Scolios... OMIM:313400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
15Q24 Microdeletion Syndrome
Postnatal growth retardation, Abnormal thumb morphology, Decreased response to growth hormone sti... ORPHA:94065
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Relative ... ORPHA:397590
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Increased vertebral h... ORPHA:2616
Harrod Syndrome
Abnormal shoulder morphology, Hypospadias, Scoliosis, Abnormal pelvic girdle bone morphology, Kyp... ORPHA:2115
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma OMIM:610023
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnor... OMIM:314390
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Proximal placement of thumb, Kyphosis, Decreased testicular size, D... OMIM:615433
Silver-Russell Syndrome 3
Postnatal growth retardation, Penoscrotal hypospadias, Clinodactyly of the 5th finger, Relative m... OMIM:616489
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Split hand, Kyphosis, Short stature, Obesity OMIM:618124
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple... OMIM:614034
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Hypomelanosis Of Ito
Radial deviation of finger, Macrocephaly, Scoliosis, Kyphosis, Microcephaly, Hand polydactyly, Sy... OMIM:300337
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Aniridia ORPHA:654
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Hypospadias, Abnormal intervertebral disk morphology, Prominent occiput, Finger syn... ORPHA:2311
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Microphthalmia, Cataract ORPHA:1617
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Postaxial han... ORPHA:3082
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, External genital hypoplasia, Microcornea, Developmental cataract, ... OMIM:600118
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:50251
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis, Kyphosis OMIM:277950
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Relative macrocephaly, Femoral bowing, Short long bone... OMIM:618019
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior ORPHA:382
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membr... ORPHA:251004
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Bilateral tonic-clonic seizure, Febril... ORPHA:263516
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormality of the kidney, Macrocephaly, Platyspondyly, Abnormal ... ORPHA:2655
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le... ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure ORPHA:140927
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Macrocephaly, Truncal obesity, Kyphosis ORPHA:2429
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... ORPHA:1354
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne... ORPHA:449395
Mccune-Albright Syndrome
Abnormal femur morphology, Renal phosphate wasting, Scoliosis, Abnormal testis morphology, Precoc... ORPHA:562
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Microcephaly, Short stature, ... OMIM:615834
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93476
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi... ORPHA:314473
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Failure to thrive, Neonatal death, Kyphosis OMIM:618237
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran... OMIM:221900
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain... OMIM:608836
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Failure to thrive, Kyphosis ORPHA:319199
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Abnormal hip bone morphology, Hypospadias, Hyperlordosis, Kyphosis, Abn... ORPHA:2522
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port... ORPHA:824
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Scoliosis, Kyphosis, Short stature, Brachydactyly, Hip dysplasia, Short d... ORPHA:1858
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Abnormal digit morphology, Microcephaly, Slender build OMIM:300831
Spondyloepiphyseal Dysplasia Congenita
Spinal rigidity, Short long bone, Flat acetabular roof, Abnormally ossified vertebrae, Kyphosis, ... ORPHA:94068
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iri... OMIM:212550
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Partington Syndrome
Macroorchidism ORPHA:94083
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Polyembryoma
Isosexual precocious puberty, Abnormal sacrum morphology, Macroorchidism, Irregular menstruation ORPHA:180229
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Marinesco-Sjogren Syndrome
Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Hypergonadotropic hypogonadism, Microcep... OMIM:248800
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Broad distal phalanx of finger, Sacral dimple, Hypospadias, Sandal gap, Scoliosis,... OMIM:615761
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Dolichocephaly, Short neck, Cryptorchidism, Clinodactyly ORPHA:178148
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l... OMIM:618718
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con... OMIM:313420
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular ro... OMIM:271700
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist... ORPHA:168569
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Iris hypopigmentat... ORPHA:381
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Growth delay, Broad proximal phalanges of the hand, Hallux valgus ORPHA:505652
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Kypho... OMIM:618658
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Flared ili... OMIM:230650
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Bethlem Myopathy 2
Scoliosis, Kyphosis, Hip dislocation OMIM:616471
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Microcephaly, Short stature, Cryptorchi... ORPHA:352490
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Macroorchidism, Kyphoscoliosis ORPHA:324410
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy OMIM:615637
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis, Microcephaly, Obesity, Tapered finger OMIM:619255
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Scoliosis, Delayed puberty, Kyphosis ORPHA:2598
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Preaxial polydactyly, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,... OMIM:612651
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Scoliosis, Finger joint contracture, Kyphosis, Short stature, Intraut... ORPHA:48431
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Flexion contracture of finger, Adducted thumb, Cryptorchidis... OMIM:618484
Silver-Russell Syndrome
Secondary microcephaly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias... ORPHA:813
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Senior-Boichis Syndrome
Polydipsia, Tubular luminal dilatation, Cholestasis, Ascites, Abnormal renal insterstitial morpho... ORPHA:84081
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Vertebral segmentatio... ORPHA:1005
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly, Scoliosis, Relative macrocephaly, Kyphosis, Microcephaly, Short sta... ORPHA:500055
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Babesiosis
Anorexia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency... ORPHA:108
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Scoliosis, Kyphosis, Microcephaly, Short stature, Obesity, Absent pubertal ... ORPHA:464282
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Phenylketonuria
Increased level of hippuric acid in urine, Hyperactivity, Compulsive behaviors, Elevated urinary ... OMIM:261600
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Desbuquois Dysplasia 2
Relative macrocephaly, Short long bone, Flat acetabular roof, Short metacarpal, Microcephaly, Bro... OMIM:615777
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Bone marrow hypocellularity, Microphthalmia, Decreased pineal volume OMIM:301108
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Abnormality of the kidney, Macrocephaly, Short greater sciatic no... ORPHA:1860
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally ossified v... ORPHA:93284
Biemond Syndrome Type 2
Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hip contracture, Hyperlordosis, Kyphosis OMIM:600175
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micr... OMIM:610125
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopath... ORPHA:85450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency... ORPHA:79312
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macrocephaly, Hyperextensibility of the finger joints, Broad thumb, Frontal bossing, Arachnodacty... OMIM:309520
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Vertebral segmentation defect, Kyphosis, Microcephaly, Severe short stature, Cryptorch... ORPHA:2617
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Alpha-Mannosidosis
Macrocephaly, Hepatomegaly, Craniofacial hyperostosis, Scoliosis, Bowing of the long bones, Kypho... ORPHA:61
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Macrocephaly, Genu valgum, Platyspondyly, Scoliosis, Hyperlordosi... ORPHA:582
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Genitopalatocardiac Syndrome
Hypospadias, Scoliosis, Postaxial hand polydactyly, Kyphosis, Male pseudohermaphroditism, Microce... ORPHA:2075
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N... OMIM:619644
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Con... ORPHA:3392
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Aggr... OMIM:252920
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Kyphosis, Frontal bossin... OMIM:169400
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Spinal rigidity, Kyphosis OMIM:618323
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Corneal opacity, Left ventricular hypertrophy, Cataract OMIM:613153
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Refsum Disease
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Splenomegaly ORPHA:773
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Developmental cataract, Retinal neovascularizati... OMIM:193220
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Genu valgum, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, ... OMIM:253000
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Abnormality of the kidney, Macrocephaly, Cloverleaf skull, Kyphos... ORPHA:93274
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism ORPHA:487825
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Scoliosis, Dislocation of the femoral head, Kyphosis, Co... OMIM:619797
Aggressive Systemic Mastocytosis
Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukoc... ORPHA:98850
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention... OMIM:620141
Nance-Horan Syndrome
Retinal detachment, Microcornea, Microphthalmia, Cataract ORPHA:627
Lissencephaly 8
Optic atrophy, Microphthalmia, Cataract OMIM:617255
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ... OMIM:152950
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Rhabdoid Tumor
Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Short stature, Cryptorchidism ORPHA:2471
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Cryptorchidism, Iris coloboma ORPHA:139471
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko... ORPHA:505248
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Fryns Microphthalmia Syndrome
Unicornuate uterus, Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Op... OMIM:120200
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia... OMIM:612783
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, Scoliosis, Femoral bowing, ... ORPHA:140
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small scrotum, Developmental cataract, Cataract, Micropenis OMIM:610756
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Macrocephaly, Turricephaly, Lambdoidal craniosynostosis, Narrow ili... OMIM:616294
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Nephrolithiasis, Kyphosis, Hypergonadotropic hypogonadism, Microcephaly, Neuropa... ORPHA:352447
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ... ORPHA:169090
Pierpont Syndrome
Microcornea, Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
19P13.12 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger syndactyly, Scolio... ORPHA:254346
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Small pituitary gland, Impotence, Kyphosis, Microcephaly, Breast hypoplasia, Fla... ORPHA:2232
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Scoliosis, ... ORPHA:2916
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab... ORPHA:1333
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Slender build, Macrocephaly, Kyphosis OMIM:300676
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis, Hip contracture, Hip dysplasia OMIM:615290
Ovarian Fibrothecoma
Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,... ORPHA:314478
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,... OMIM:259440
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Macrocephaly, Urinary incontinence, Rhizomelia, Platyspondyly, Femoral bowing, Tibial bowing, Kyp... OMIM:616482
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb... ORPHA:2969
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Scoliosis, Cranial asymmetry, Camptod... OMIM:609128
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Microcephaly, Short distal phalanx of finger, Intrauterine... OMIM:210720
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Growth delay, Failure to thrive, Delayed proximal f... ORPHA:90674
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microphthalmia, Astigmatism OMIM:619694
Meckel Syndrome
Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia, Microcornea, Asplenia, Male pseudo... ORPHA:564
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia, Elevated circulating hepatic transaminase concentration, Cataract,... OMIM:612379
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia, Small scrotum, Microcornea, Hypoplastic labia minora, Decreased te... OMIM:614222
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Alg9-Cdg
Brachycephaly, Narrow greater sciatic notch, Enlarged kidney, Hepatomegaly, Rhizomelia, Flared me... ORPHA:79328
Marden-Walker Syndrome
Postnatal growth retardation, Hypospadias, Scoliosis, Camptodactyly, Kyphosis, Microcephaly, Rena... OMIM:248700
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Prader-Willi Syndrome
Delayed puberty, Radial deviation of finger, Kyphosis, Syndactyly, Intrauterine growth retardatio... OMIM:176270
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Ambiguous genitalia, Microphthalmia ORPHA:93267
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Scoliosis, Kyphosis, Slender finger, Short neck, Adducted thumb, Long toe, Incre... ORPHA:75840
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Turricephaly, Crumpled long bones, Abnormal form of the vertebral... ORPHA:2050
Brachyolmia Type 3
Radial deviation of finger, Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Short... OMIM:113500
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Large iliac wing, Kyphosis, Dermatan sulfate excretion in urine, Pr... OMIM:253220
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Clinodactyly of the 5th finger, Abnormal shou... ORPHA:568
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Scoliosis, Kyphosis, Frontal bossing, Arachnodactyly, Adducted thumb ORPHA:2181
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter... ORPHA:160
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Pe... OMIM:243605
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism, Microcephaly, Neuropathic spinal arthr... OMIM:615084
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryp... OMIM:614225
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Growth delay, Frontal bossing, Short palm, Short neck, Intrauterine growth r... ORPHA:238750
Sjögren-Larsson Syndrome
Microcephaly, Scoliosis, Kyphosis, Short stature ORPHA:816
3C Syndrome
Postnatal growth retardation, Macrocephaly, Hypospadias, Abnormal hip bone morphology, Prominent ... ORPHA:7
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly... OMIM:256550
Aspartylglucosaminuria
Brachycephaly, Beaking of vertebral bodies, Hepatomegaly, Spondylolysis, Spondylolisthesis, Scoli... OMIM:208400
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Cataract, Nuclear cataract ORPHA:79237
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting, Self... OMIM:618314
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Scoliosis, Kyphosis, Contracture of the proximal interphala... OMIM:130060
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Scoliosis, Hepatomegaly, Kyphosis OMIM:618234
Fountain Syndrome
Macrocephaly, Abnormal metacarpal morphology, Craniofacial hyperostosis, Abnormal form of the ver... ORPHA:3219
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M... OMIM:612109
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Abnormal exter... ORPHA:314588
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl... ORPHA:79259
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Hepatomegaly, Polycystic kidney dysplasia, Kyphosis, Microcephaly, Frontal bossing... OMIM:608776
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Brachycephaly, Sacral dimple, Scoliosis, Prominent fingertip pads, Tapered finger, Hyperlordosis,... OMIM:619950
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly, Macrocephaly, Scoliosis, Kyphosis, Short stature, Slender build, Hydronephrosis, C... ORPHA:364028
Dysostosis, Stanescu Type
Brachycephaly, Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Bowing of the long bones... ORPHA:1798
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Lateral ventricle dilatation OMIM:619278
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Trisomy 13
Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Cryp... ORPHA:3378
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega... ORPHA:91138
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Legionnaires Disease
Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hy... ORPHA:549
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Cataract ORPHA:85194
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Platyspondyly, Kyphosis ORPHA:2786
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Acute Monoblastic/Monocytic Leukemia
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Olig... ORPHA:514
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Iris hypopigm... OMIM:214500
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Genu valgum, Platyspondyly, Keratan sulfate excretion in urine, Scoliosis, Hyperlor... OMIM:253010
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Hypospadias, Ectopic kidney, Horseshoe kidney, Enuresis nocturna, Vesicoureteral ... OMIM:301111
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia, Peters anomaly, Bilateral cryptorchidism OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia, Microcornea, Decreased testicular size, Developmental cataract, Sm... OMIM:615663
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Enlarged metaphyses, Short metacarpal, Kyphosis, Microcephaly, Cran... ORPHA:508533
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Sandal gap, Prominent fingertip pads, Hyperlordosis, Short lower limbs, Intraute... OMIM:615873
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Alg1-Cdg
Abnormality of the kidney, Progressive microcephaly, Scoliosis, Kyphosis, Nephrotic syndrome, Ren... ORPHA:79327
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He... OMIM:606003
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Hypo... ORPHA:1328
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Hypoplasia of... ORPHA:899
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Macrocephaly, Abnormal thumb morphology, Spina bifida... ORPHA:500095
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism, Developmental cataract, Abdominal adhesions, Lymphopeni... OMIM:616395
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Spina bifida occulta, Hypoplasia of penis, Kyphosis, Hypogonadism, Small scrotum, Sh... ORPHA:2983
Paget Disease Of Bone 5, Juvenile-Onset
Macrocephaly, Hypercalciuria, Increased urine deoxypyridinoline level, Relative macrocephaly, Bow... OMIM:239000
Mucolipidosis Iii Gamma
Genu valgum, Flat capital femoral epiphysis, Shoulder contracture, Scoliosis, Hyperlordosis, Flar... OMIM:252605
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Joubert Syndrome 33
Splenomegaly OMIM:617767
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Micro Syndrome
Optic atrophy, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retina... ORPHA:2510
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, Decreased testicular size, Cryptorchidism, Micropenis OMIM:619185
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Kyphosis, Microcephaly, Short stature, Failure to thrive in infancy, Abnorma... ORPHA:702
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Scoliosis, Dislocation of toes, Brachyturricephaly, Camptodactyly, Congenital hip... OMIM:300280
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Supernumerary nipple, Unilateral renal agenesis, Sandal gap, Bicoronal synost... OMIM:619951
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:230400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Macrocephaly, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Congenita... OMIM:618291
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Congenital bilateral hip dislocation, Shoulder flexion contracture, Scoliosis, Hy... ORPHA:536516
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Hurler Syndrome
Calvarial hyperostosis, Flared iliac wing, Dermatan sulfate excretion in urine, Kyphosis, Biconca... OMIM:607014
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Multicystic kidney dysplasia, Sandal gap, Scoliosis, Kyphosis, Decreased testicula... ORPHA:261349
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Aggressive behavior OMIM:301013
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Proteus Syndrome
Macrodactyly, Enlarged kidney, Abnormal form of the vertebral bodies, Cachexia, Abnormal finger m... ORPHA:744
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, ... ORPHA:585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Hepatic fibrosis, Splenomegaly, Retinal degeneration, Hepatic failure OMIM:615630
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Renal hypoplasia/aplasia, ... ORPHA:958
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Abnormal fallopian tube morphology, Pancreatic lymphangiect... ORPHA:1655
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Rocker bottom foot, Urinary incontinence, Scoliosis, Kyphosis, Microcephaly, Short... OMIM:301041
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Clinodactyly of the 5th finger, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Sl... OMIM:618443
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Mucopolysacchariduria, Failure to thrive, ... ORPHA:583
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Hypospadias, Bicoronal synostosis, Scoliosis, Kyphosis, Anterior plagiocephaly, ... OMIM:619718
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine OMIM:252900
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Premature ovarian insufficiency, Decreased response to growth hormo... ORPHA:96179
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Iris coloboma ORPHA:85284
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cry... ORPHA:3301
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Infertility, Urinary incontinence, Kyphosis OMIM:614409
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Kyphosis, Hypogonadism, Small scrotum, External gen... ORPHA:398069
Otodental Syndrome
Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma ORPHA:2791
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
2Q31.1 Microdeletion Syndrome
Sandal gap, Kyphosis, Microcephaly, Trigonocephaly, Abnormal fibula morphology, Abnormal tibia mo... ORPHA:251014
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Kyphosis, Renal agenesis, Arachnodactyly, Obesi... ORPHA:261222
Emanuel Syndrome
Sacral dimple, Unilateral renal agenesis, Recurrent urinary tract infections, Scoliosis, Kyphosis... OMIM:609029
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Leprechaunism
Postnatal growth retardation, Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Long penis, Hy... ORPHA:508
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Ren... ORPHA:36412
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C... ORPHA:99812
Bruck Syndrome 1
Vertebral wedging, Scoliosis, Kyphosis, Coxa vara, Short stature, Protrusio acetabuli, Hip contra... OMIM:259450
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C... OMIM:617591
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Scoliosis, Kyphosis, Microcephaly, Obesity, Hydronephrosis, Hallux val... OMIM:620511
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Retinal detac... ORPHA:370959
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Familial Exudative Vitreoretinopathy
Microphthalmia, Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Tractional ret... ORPHA:891
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasi... ORPHA:3376
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Hepatomegaly, Spondylolisthesis, Scoliosis, Short long bone, Split hand, ... OMIM:252600
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Kyphosis, Microcephaly, Arachnod... ORPHA:2461
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology... OMIM:216360
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Microcephaly, Plagiocephaly, Kyphosis ORPHA:77300
Trisomy 9P
Brachycephaly, Sacral dimple, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Microcephaly, ... ORPHA:236
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Biliary tract obstruct... ORPHA:77259
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Cryptorchidism, Peters anomaly, Iris col... ORPHA:494344
Holt-Oram Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Scoliosis, Split hand, Ky... ORPHA:392
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Kyphoscoliosis, Radial deviation of finger, Hypospadias, Scoliosis,... OMIM:301040
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Acute Promyelocytic Leukemia
Anorexia, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Addictive alcohol use, ... ORPHA:520
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri... ORPHA:77298
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Farber Disease
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Macular degener... ORPHA:333
Mucopolysaccharidosis, Type Ii
Macrocephaly, Hepatomegaly, Split hand, Kyphosis, Dermatan sulfate excretion in urine, Short stat... OMIM:309900
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L... ORPHA:829
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Abnormal form of th... ORPHA:354
Sialidosis Type 2
Hepatomegaly, Kyphosis, Short stature, Splenomegaly, Nephropathy ORPHA:87876
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Fa... ORPHA:420794
Cohen Syndrome
Delayed puberty, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sanda... ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Retinal degeneration, Microphthalmia, Abnormally large globe OMIM:615249
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Recurrent urinary tract infections, Scoliosis, Vesicoureteral r... OMIM:610443
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Wieacker-Wolff Syndrome
Proximal placement of thumb, Scoliosis, Hyperlordosis, Camptodactyly, Kyphosis, Microcephaly, Sho... OMIM:314580
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Hepatic fibrosis, Abnormality of the ovary,... OMIM:209900
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Atypical Rett Syndrome
Secondary microcephaly, Scoliosis, Kyphosis, Growth delay, Short foot, Small hand ORPHA:3095
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Scoliosis, Vesicoureteral reflux, Vertebral segmentation defec... ORPHA:96169
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Cdags Syndrome
Brachycephaly, Rectourethral fistula, Lambdoidal craniosynostosis, Hypospadias, Rectovaginal fist... OMIM:603116
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Mosaic Trisomy 9
Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallop... ORPHA:99776
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Kyphosis, Severe short stature, Symphalangism affecting the phalanges... ORPHA:2658
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Heparan sulfate excretion in urine OMIM:252930
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia, Cryptorchidism OMIM:214150
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Spondyloepiphyseal Dysplasia Congenita
Delayed pubic bone ossification, Platyspondyly, Delayed calcaneal ossification, Neonatal short-tr... OMIM:183900
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma ORPHA:1791
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Decreased response to growth hormone stimulation test, Optic nerve h... OMIM:609053
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C... OMIM:615895
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia OMIM:617883
Alpha-Mannosidosis, Adult Form
Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Optic disc pallor ORPHA:309288
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Microphthalmia, Retinal neovascularization, Shallow anterior chamber OMIM:305390
Congenital Heart Defects And Skeletal Malformations Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Scoliosis, Camptodactyly, Kyphosis, Shor... OMIM:617602
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy OMIM:230800
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Ogden Syndrome
Postnatal growth retardation, Enlarged kidney, Clinodactyly of the 5th finger, Sandal gap, Polycy... OMIM:300855
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Kapur-Toriello Syndrome
Microphthalmia, Hypoplastic labia majora, Retinal coloboma, Cataract, Cryptorchidism, Micropenis,... OMIM:244300
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloidosis, Cervical lymphadenopathy OMIM:142680
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Flared humeral meta... OMIM:277590
Arthrogryposis, Distal, Type 5
Scoliosis, Absent phalangeal crease, Congenital finger flexion contractures, Kyphosis, Short stat... OMIM:108145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Microcephaly, Vertebral fusion OMIM:606612
Pycnodysostosis
Short finger, Decreased response to growth hormone stimulation test, Spondylolysis, Rhizomelia, S... ORPHA:763
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Microcephaly, Arachnodactyly, Intrauterine growth retardation, Primary microcephaly, Po... ORPHA:464306
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Synostosis of carpal bones, Kyphosis, Short stature, Obesity, Short neck ORPHA:3191
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:169550
Temtamy Syndrome
Lens luxation, Ectopia lentis, Microphthalmia, Iris coloboma OMIM:218340
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Arachnodactyly, Camptoda... ORPHA:1883
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis, Biparietal narrowing, Microcephaly, Short stature ORPHA:261190
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Poland Syndrome
Renal hypoplasia/aplasia, Kyphosis, Microcephaly, Ureterocele, Cone-shaped epiphysis, Hypospadias... ORPHA:2911
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Scoliosis, Tapered finger, Short foot, Ren... ORPHA:464311
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Disinhibition, Dementia, Attention deficit hyperactivity dis... ORPHA:43
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Clinodactyly of the 5th finger, Kyphosis ORPHA:3454
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Developmental cataract OMIM:614219
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Scoliosis, Kypho... ORPHA:812
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Iris coloboma ORPHA:2328
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Hypoplastic labia minora, Kyphosis, A... ORPHA:64755
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia... OMIM:615877
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Bruck Syndrome
Scoliosis, Bowing of the long bones, Kyphosis, Short stature, Platyspondyly ORPHA:2771
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Rett Syndrome
Secondary microcephaly, Cachexia, Scoliosis, Kyphosis, Short stature, Short foot OMIM:312750
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy... ORPHA:93552
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat... OMIM:602782
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney... OMIM:610832
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno... OMIM:617388
Tetraamelia Syndrome 1
Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at... OMIM:273395
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr... ORPHA:800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... OMIM:251880
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment, Microcornea, Ectopia lentis, Cataract, Iris coloboma ORPHA:2712
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Shashi-Pena Syndrome
Macrocephaly, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Scoliosis, Short metaca... OMIM:617190
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen... OMIM:620005
Lopes-Maciel-Rodan Syndrome
Scoliosis, Short foot, Kyphosis, Small hand OMIM:617435
Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Sacral dimple, Scoliosis, Vesicoureteral reflux, Camptodactyly, Clitoral hypoplasia... OMIM:616894
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... OMIM:609049
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract ORPHA:2714
Megalocornea-Intellectual Disability Syndrome
Macrocephaly, Scoliosis, Kyphosis, Microcephaly, Frontal bossing, Short stature, Metatarsus valgu... ORPHA:2479
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital... ORPHA:974
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Developmental glaucoma, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreati... OMIM:610199
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Cataract ORPHA:163649
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Sandal gap, Left ventricular hypertrophy OMIM:619040
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... ORPHA:293173
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Flared iliac wing, Tr... OMIM:312870
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Scol... ORPHA:137834
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia OMIM:608885
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism, Male hypogonadism OMIM:615381
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Hepatomegaly, Scoliosis, Decreased body weight, Kyphosis, Frontal bossing, Increas... OMIM:619005
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Papilledema, Splenomegaly, H... ORPHA:2905
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he... ORPHA:264580
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Microcornea, Microphthalmia OMIM:617306
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Scoliosis, Kyphosis, Frontal bossing, Hypoplastic vert... OMIM:230500
Mosaic Trisomy 20
Abnormality of the kidney, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, In... ORPHA:1724
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Myopathy, Centronuclear, 2
Intrauterine growth retardation, Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Aspartylglucosaminuria
Beaking of vertebral bodies, Hepatomegaly, Abnormal vertebral morphology, Anterior beaking of lum... ORPHA:93
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Opt... OMIM:260920
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hyp... OMIM:236670
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio... OMIM:618280
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ... OMIM:309801
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Urinary incontinence, Clinodactyly of the 5th finger, 2-3 toe syndactyly,... ORPHA:476126
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjunctivitis sicca, Leukopeni... ORPHA:809
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem... OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... OMIM:614643
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Hepatitis,... ORPHA:139402
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:610651
Coffin-Lowry Syndrome
Broad finger, Abnormal diaphysis morphology, Craniofacial hyperostosis, Abnormal form of the vert... ORPHA:192
Zimmermann-Laband Syndrome 2
Short stature, Short neck, Kyphosis OMIM:616455
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Brachycephaly, Broad distal phalanx of finger, 2-3 toe syndactyly, Scoliosis, Kyphosis, Postaxial... ORPHA:404440
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Macrocephaly, Kyphosis, Postaxial polydactyly, Frontal bossing, Thoracic scoliosis OMIM:603387
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Finger syndactyly, Scoliosis, Kyphosis, Metatarsus adductus, Arachnodactyly, Campt... ORPHA:2215
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Osteogenesis Imperfecta, Type Viii
Disproportionate short-limb short stature, Slender long bone, Femoral retroversion, Vertebral com... OMIM:610915
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia OMIM:302350
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Microcornea, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara... ORPHA:284160
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Disproportionate short-limb short stature, Hypoplasia of penis, San... ORPHA:1507
Congenital Syphilis
Optic atrophy, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenome... ORPHA:499009
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Microphthalmia, Anemia OMIM:617244
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Cockayne Syndrome Type 2
Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism, Intrauterine growth retardation, Male hypogona... ORPHA:90322
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Scoliosis, Kyphosis, Failure to thrive, Slender build, Increased laxity of finge... OMIM:254090
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis, Iris coloboma OMIM:243310
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Waldenström Macroglobulinemia
Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutroph... ORPHA:33226
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Genu valgum, Scoliosis, Kyphosis, Microcephaly, Short stature, Obesity, Hip contracture, Finger j... OMIM:618493
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Marshall-Smith Syndrome
Kyphoscoliosis, Prominent occiput, Prominent fingertip pads, Kyphosis, Short distal phalanx of fi... OMIM:602535
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Retinal atrophy, Corneal opacity, Ectopia pupillae, Optic disc coloboma, Lens sub... OMIM:608940
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Nephrolithiasis, Kyphosis, Biconcave vertebral bodies, Oligomenor... OMIM:219090
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Multiple Sulfatase Deficiency
Retinal degeneration, Hepatomegaly, Corneal opacity, Splenomegaly OMIM:272200
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Carcinoid Syndrome
Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ... ORPHA:100093
Cockayne Syndrome A
Square pelvis bone, Hepatomegaly, Renal insufficiency, Severe postnatal growth retardation, Hypop... OMIM:216400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas... ORPHA:79240
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Short stature, Hypoplastic scapulae ORPHA:79107
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Keratoconjunctivitis sicca, Elevated circulating hepatic transamina... ORPHA:90324
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Fucosidosis
Brachycephaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Kyphosis, Mucopolysacchariduri... ORPHA:349
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Amin... OMIM:239200
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Metatarsus adductus, Hip dysplasia, Clinodactyly, Small hand OMIM:181405
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Prominent occiput, Kyphosis, Biconcave vertebral bodies,... ORPHA:955
Congenital Myopathy 22A, Classic
Spinal rigidity, Scoliosis, Congenital finger flexion contractures, Kyphosis, Frontal bossing, Hi... OMIM:620351
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract ORPHA:2399
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Lateral Meningocele Syndrome
Neurogenic bladder, Scoliosis, Kyphosis, Short stature, Biconcave vertebral bodies, Dolichocephal... OMIM:130720
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, Microcephaly, Arachnoda... ORPHA:280
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Dermatan sulfate excretion in urine, Short stature, Growth del... OMIM:607015
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Microphthalmia, Breast aplasia, Retinal detachment, Hypoplastic... OMIM:308300
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis, Pigmentary retinopathy OMIM:614230
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Microphthalmia, Astigmatism, Retinal coloboma OMIM:618571
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating hepat... ORPHA:50918
Q Fever
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Hepatosplenomegaly, Splenomegaly, Thr... ORPHA:781
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia, Hypoparathyroidism, Retinal calcification, Papilledema, Developmental cat... OMIM:127000
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Short attention span, Impulsivity, Intention tremor, Dystonia, Dysphagia, Mental d... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat... ORPHA:2250
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hypogonadism, Cryptor... ORPHA:251066
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract OMIM:618727
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Microcephaly, Kyphosis ORPHA:500180
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Hip dislocation... OMIM:265000
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Microcornea, Cli... OMIM:147791
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Agitation, Exaggerated startle response OMIM:618056
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:228390
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Moebius Syndrome
Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism OMIM:157900
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Clitoral hypertrophy, Hypospadias, Microcornea, Cataract OMIM:616449
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Fanconi Anemia, Complementation Group F
Microphthalmia, Decreased response to growth hormone stimulation test, Anemia, Microphallus, Bone... OMIM:603467
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Scoliosis, Kyphosis, Microcephaly... OMIM:617061
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Hypospadias, Cholelithiasis, Finger syndactyly, Broad distal phalanx of the ... ORPHA:464738
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c... OMIM:615688
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Increased head circumference, Delayed puberty, Kyphoscoliosis, Macrocephaly, Hallux valgus, Scoli... OMIM:300967
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Typical Nemaline Myopathy
Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Short neck, Genu varum, Hip dis... ORPHA:171436
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Hypoplastic spl... OMIM:601186
Tangier Disease
Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thromb... ORPHA:31150
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Scoliosis, Biparietal narrowing, Kyphosis, Frontal bossing, Hip dysp... ORPHA:261250
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma ORPHA:251038
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto... ORPHA:39812
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Argininemia
Anorexia, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, H... OMIM:207800
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv... OMIM:278730
Cockayne Syndrome B
Postnatal growth retardation, Square pelvis bone, Hepatomegaly, Severe failure to thrive, Renal i... OMIM:133540
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Abnormal form of the vertebral bodies, Narrow iliac wing, Scoliosis, Bilateral cry... ORPHA:3042
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Scoliosis,... OMIM:108300
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, C... ORPHA:137675
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Tibial bowing, Shor... OMIM:143095
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo... OMIM:619557
Flynn-Aird Syndrome
Cachexia, Scoliosis, Kyphosis ORPHA:2047
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... ORPHA:167
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma OMIM:231005
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, Bladder diverticulum... OMIM:617821
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis,... ORPHA:818
Alstrom Syndrome
Polydactyly, Decreased response to growth hormone stimulation test, Hepatomegaly, Truncal obesity... OMIM:203800
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the verte... ORPHA:2062
Martsolf Syndrome 1
Microphthalmia, Developmental cataract, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hy... OMIM:212720
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
2-4 toe cutaneous syndactyly, Kyphosis, Premature thelarche, Microcephaly, Abnormal toe morpholog... ORPHA:268261
Papillorenal Syndrome
Microphthalmia, Retinal detachment, Macular degeneration, Lens luxation, Retinal coloboma, Optic ... OMIM:120330
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kypho... ORPHA:2789
Cowden Syndrome 6
Scoliosis, Kyphosis, Varicocele, Ovarian cyst, Progressive macrocephaly, Goiter, Hydrocele testis OMIM:615109
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Scoliosis, Kyphosis, Growth delay ORPHA:261144
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Microce... OMIM:618050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Macrocephaly, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Metaphyseal widening, Erl... OMIM:618476
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypergonadotropi... OMIM:212065
Cockayne Syndrome
Optic atrophy, Microphthalmia, Hepatomegaly, Keratoconjunctivitis sicca, Elevated circulating hep... ORPHA:191
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Microcephaly, Brachydactyly, Cryptorchidism OMIM:619123
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Prominent fingertip pads, Hyperlordosis, Kyphosis, Microcephaly, Arachnodactyl... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Prominent fingertip pads, Hyperlordosis, Kyphosis, Microcephaly, Arachnodactyl... ORPHA:363958
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom... OMIM:616084
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Retinal atrophy, Corneal opacity, Abnormality of retinal pigmentation, Ectopia pu... ORPHA:85167
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia OMIM:248450
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Cowden Syndrome 5
Scoliosis, Kyphosis, Ovarian cyst, Progressive macrocephaly, Goiter, Hydrocele testis OMIM:615108
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Prominent occiput, Dislocated radial hea... ORPHA:666
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Sitosterolemia 1
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reti... OMIM:210250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Cryptorchidism, Brachycephaly, Kyphosis OMIM:619244
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Aplasia of the uterus, Kyphosis, Microcephaly, Craniofacia... OMIM:194190
Atelis Syndrome 2
Microphthalmia, Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental ... OMIM:620185
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Neuroendocrine Tumor Of The Colon
Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone mar... OMIM:227645
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis, Cryptorchidism ORPHA:369891
Crisponi Syndrome
Camptodactyly of finger, Scoliosis, Kyphosis ORPHA:1545
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid, Cryptorchidism OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion OMIM:607155
X-Linked Intellectual Disability, Snyder Type
Brachycephaly, Kyphoscoliosis, Hypospadias, Ectopic kidney, Slender toe, Abnormality of the Leydi... ORPHA:3063
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Hematuria, Platyspondyly, Hypoplastic ilia... ORPHA:1855
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Lingual thyroid OMIM:606519
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Postnatal growth retardation, Sacral dimple, Prominent protruding coccyx, Prominent coccyx, Scoli... OMIM:300966
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Kyphosis, Microcephaly, Hypog... ORPHA:1606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Cataract OMIM:253800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Ascites ORPHA:139411
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Attention deficit hyperactivity di... OMIM:614294
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Splen... ORPHA:342
Marfanoid-Progeroid-Lipodystrophy Syndrome
Macrocephaly, Hyperextensibility of the finger joints, Kyphosis, Arachnodactyly, Long fingers, In... OMIM:616914
Mend Syndrome
Polydactyly, Sacral dimple, 2-3 toe syndactyly, Kyphosis, Short stature, Failure to thrive, Long ... OMIM:300960
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multipl... ORPHA:538
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response OMIM:617864
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Memory impairment, Tremor, Short attention span, Exaggerated startle response, Dystonia, Dysphagi... ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma, Retinal coloboma OMIM:184705
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... ORPHA:449432
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality o... ORPHA:2538
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity, Short neck ORPHA:98863
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Disproportionate short-li... OMIM:619194
Cowden Syndrome 1
Scoliosis, Kyphosis, Varicocele, Ovarian cyst, Progressive macrocephaly, Goiter, Ovarian carcinom... OMIM:158350
Monosomy 9Q22.3
Polydactyly, Large for gestational age, Macrocephaly, Abnormality of the vertebral column, Ovaria... ORPHA:77301
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Dysphagi... OMIM:617913
Neuroblastoma
Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ... ORPHA:635
Frank-Ter Haar Syndrome
Brachycephaly, Kyphoscoliosis, Flared metaphysis, Prominent coccyx, Anterior concavity of thoraci... OMIM:249420
Jaberi-Elahi Syndrome
Microcephaly, Failure to thrive, Scoliosis, Kyphosis OMIM:617988
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Aspleni... OMIM:249000
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc... OMIM:600901
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:98855
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Postnatal growth retardation, Genu valgum, Plat... OMIM:309000
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Abnormal forearm bone morpho... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Abnormal forearm bone morpho... ORPHA:99228
Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Abnormal forearm bone morpho... ORPHA:99226
Turner Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Abnormal forearm bone morpho... ORPHA:881
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Hypospadias, Parietal foramina, Kyphosis, Corona... ORPHA:85199
Zttk Syndrome
Polyuria, Macrocephaly, Unilateral renal agenesis, Scoliosis, Relative macrocephaly, Hemivertebra... OMIM:617140
Treacher-Collins Syndrome
Microphthalmia, Small scrotum, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hyp... ORPHA:861
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Microcornea, Hypogonadism, Cataract, Keratoconjunctivitis sicca OMIM:601675
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Microphthalmia, Aplasia of the uterus OMIM:619879
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Vater/Vacterl Association
Postnatal growth retardation, Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral ... OMIM:192350
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo... OMIM:227646
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Ectopic kidney, Sandal gap, Dislocated radial head, Aplasia of the uterus, ... OMIM:135900
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula... ORPHA:699
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Prominent occiput, Severe intrauterine growth retardation, Short metacarpal... ORPHA:3404
Frontorhiny
Cataract, Microphthalmia, Hypopituitarism, Iris coloboma ORPHA:391474
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis OMIM:620233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroid... OMIM:241410
Yunis-Varon Syndrome
Flat acetabular roof, Kyphosis, Microcephaly, Absent thumb, Intrauterine growth retardation, Shor... OMIM:216340
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Norrie Disease
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacit... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly OMIM:613150
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc... OMIM:227650
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Mosaic Trisomy 1
Microphthalmia, Penile hypospadias, Hepatic agenesis, Opacification of the corneal stroma, Microp... ORPHA:1692
Tuberous Sclerosis Complex
Abnormality of the kidney, Chronic kidney disease, Hyperactivity, Polycystic kidney dysplasia, Re... ORPHA:805
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Arachnodactyly OMIM:609008
Cowden Syndrome
Abnormality of the kidney, Adenoma sebaceum, Macrocephaly, Abnormal penis morphology, Scoliosis, ... ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Kyphosis, Nephrocalcinosis, Multiple renal cysts, Abnormal epiphysis morphology,... ORPHA:534
Solitary Median Maxillary Central Incisor
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... OMIM:147250
Monosomy 18P
Microphthalmia ORPHA:1598
Trisomy 18
Microphthalmia, Microcornea, Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Abnor... ORPHA:3380
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Tibial bowing, Kyphosis, Microcephaly,... OMIM:259770
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:98853
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane OMIM:257850
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorc... OMIM:268400
Microphthalmia With Limb Anomalies
Microphthalmia, Unilateral cryptorchidism, Anophthalmia OMIM:206920
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Incontinentia Pigmenti
Microphthalmia, Retinal detachment, Corneal opacity, Retinal hemorrhage, Keratitis, Cataract, Eos... ORPHA:464
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Neuroendocrine Tumor Of The Rectum
Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Fanconi Anemia
Microphthalmia, Astigmatism, Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Bic... ORPHA:84
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Holoprosencephaly
Optic atrophy, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhy... ORPHA:2162
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Kyphosis... ORPHA:521426
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Fryns Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Ectopic pancreatic ... OMIM:229850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Elevated circulating he... OMIM:301068
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Progressive microcephaly, Cessation of head growth, Kyphosis, Postaxial polyd... OMIM:617527
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Scoliosis, Elevated urinary epinephrine level, Hyperlordosis, Kyphosis, Parathy... OMIM:162300
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sacral dimple, Hammertoe, Sandal gap, Hallux valgus, Shoulder dislocation, Kyphos... ORPHA:536532
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis, Conjunctivitis, Orchitis ORPHA:32960
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,... ORPHA:2136
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Retinal dysplasia, Anophthalmia, A... ORPHA:2556
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Vacterl With Hydrocephalus
Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Cryptorchidism ORPHA:3412
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Cachexia, Scoliosis, Kyphosis, Short stature, Genu varum ORPHA:1969
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Abnormal sacrum morphology, Kyphosis ORPHA:324737
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert... OMIM:608594
Mgat2-Cdg
Progressive microcephaly, Scoliosis, Hypoplastic nipples, Kyphosis, Failure to thrive, Dolichocep... ORPHA:79329
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom... ORPHA:797
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop... OMIM:619148
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Hyperactivity, Tremor, Blepharospasm, Phonic tics, Dystonia, Motor ti... OMIM:234200
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma ORPHA:2839
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res... OMIM:618223
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Mucolipidosis Type Ii
Postnatal growth retardation, Abnormal long bone morphology, Kyphosis, Short stature, Hip contrac... ORPHA:576
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Pigmented Nodular Adrenocortical Disease, Primary, 1
Secondary amenorrhea, Increased urinary cortisol level, Truncal obesity, Kyphosis OMIM:610489
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomegaly, Conjunc... OMIM:263700
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin... ORPHA:556
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Alexander Disease
Macrocephaly, Scoliosis, Hyperlordosis, Kyphosis, Precocious puberty, Frontal bossing, Failure to... ORPHA:58
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara... ORPHA:42775
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Scoliosis, Kyphosis, Short stature, Bic... OMIM:166220
Fryns Syndrome
Microphthalmia, Hypospadias, Corneal opacity, Bicornuate uterus, Cryptorchidism ORPHA:2059
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Mend Syndrome
Sacral dimple, 2-3 toe syndactyly, Kyphosis, Short stature, Failure to thrive, Hand polydactyly, ... ORPHA:401973
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
22Q11.2 Deletion Syndrome
Optic atrophy, Corneal neovascularization, Microphthalmia, Hypoparathyroidism, Hypospadias, Chole... ORPHA:567
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Plagiocephaly, Chalazion, Scoliosis, Slender finger, Microcephaly, ... OMIM:613355
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism ORPHA:2728
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia, Hypospadias ORPHA:65286
1Q21.1 Microdeletion Syndrome
Cataract, Microphthalmia, Cryptorchidism, Iris coloboma ORPHA:250989
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Trichothiodystrophy
Gonadal dysgenesis, Bilateral microphthalmos, Astigmatism, Anemia, Increased mean corpuscular hem... ORPHA:33364
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism,... OMIM:603457
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert... OMIM:269700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Retinal coloboma, Cataract, Iris coloboma OMIM:607323
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia, Congenital hypoparathyroidism, Retinal calcification, Decreased... ORPHA:93325
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Aplastic clavicle, C... ORPHA:198
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Corneal opacity, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Catarac... ORPHA:1052
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Noonan Syndrome 14
Kyphosis, Short stature, Short neck, Cryptorchidism, Clinodactyly OMIM:619745
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Somatomammotropinoma
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Anterior hypopituitarism, Dysuri... ORPHA:314769
Brucellosis
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr... ORPHA:1304
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Micropenis OMIM:614083
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Macrocephaly, Scoliosis, Hyperlordosis, Kyphosis, Frontal bossing, Ara... OMIM:617011
Joubert Syndrome 14
Optic atrophy, Microphthalmia OMIM:614424
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Microphthalmia, Ambiguous genitalia, Corneal ulceration,... OMIM:263650
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Coffin-Lowry Syndrome
Lumbar kyphosis, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Scoli... OMIM:303600
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Precocious puberty, Hepatoblastoma, Optic disc... OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hyperlordosis, Scoliosis, Kyphos... OMIM:620450
Acromegaly
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Anterior hypopituitarism, Long p... ORPHA:963
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Cataract, Ovarian carcinoma, Iris coloboma OMIM:109400
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula... ORPHA:3260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Dubowitz Syndrome
Aplastic anemia, Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Acute lymphob... OMIM:223370
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyalo... OMIM:300166
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Choreoathetosis, Aggressive behavior OMIM:612716
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Microcephaly, Short stature, Intrauterine growth retard... ORPHA:1393
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti... ORPHA:289390
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Aplasia of the thymus, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Pr... OMIM:620186
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Acute pancreatitis, Leukocytosi... ORPHA:99827
Hallermann-Streiff Syndrome
Microphthalmia, Optic disc coloboma, Cataract, Cryptorchidism, Iris coloboma OMIM:234100
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Abnormal vertebral morphology, Hydroureter, Abnormality of the vertebr... ORPHA:2273
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Abnormality o... ORPHA:2526
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of... ORPHA:449563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal atrophy, Megalocornea, Hyp... OMIM:253280
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Optic nerve compre... ORPHA:79078
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Cataract, Keratitis, Splenomegaly, A... ORPHA:90340
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Focal Dermal Hypoplasia
Microphthalmia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Acute hepatic failure, I... ORPHA:2092
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Microcephaly... ORPHA:904
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Precocious puberty, Abnormality of retinal pig... ORPHA:50
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Large for gestational age, Macrocephaly, Kyphosis, Arachnodactyly, Slender build,... ORPHA:457359
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea OMIM:300952
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Truncal obesity, Kyphosis OMIM:219080
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch... ORPHA:100075
Pseudotrisomy 13 Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism, Developmental cataract, Abdominal situs inversus ORPHA:2108
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst, Truncal obesity OMIM:610475
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,... ORPHA:100078
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Kyphosis OMIM:619909
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Microcornea, Optic disc coloboma, Cataract, Iris coloboma ORPHA:959
Wrinkly Skin Syndrome
Slender long bone, Progressive microcephaly, Scoliosis, Kyphosis, Congenital hip dislocation, Mic... OMIM:278250
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... ORPHA:100079
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Iris coloboma OMIM:115470
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Systemic Lupus Erythematosus
Anorexia, Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolyti... ORPHA:536
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite... OMIM:619573
Reynolds Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil... OMIM:613471
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,... OMIM:175780
Histidinemia
Hyperactivity, Histidinuria ORPHA:2157
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Occipital Horn Syndrome
Genu valgum, Short clavicles, Kyphosis, Growth delay, Ureteral obstruction, Hydronephrosis, Short... OMIM:304150
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis, Flexion contracture of finger, Camptodactyly ORPHA:88628
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Cryptorchidism, Peters anomaly OMIM:616975
Orofaciodigital Syndrome Iii
Short sternum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:258850
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia, Optic disc coloboma OMIM:608091
Ohdo Syndrome, X-Linked
Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis OMIM:300895
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Cousin Syndrome
Ambiguous genitalia, male, Microcornea, Microphthalmia, Ambiguous genitalia, female OMIM:260660
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Kyphosis, Dolichocephaly, Dilatation of the renal pelvis, Overlapping fingers OMIM:619708
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Conjunctival hyperemia, Papilledema,... ORPHA:509
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia, Retinal coloboma, Abnormal optic disc morpho... ORPHA:508498
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Splenomegaly ORPHA:667
Behçet Disease
Pancreatitis, Lymphadenopathy, Splenomegaly, Orchitis, Cataract, Keratoconjunctivitis sicca ORPHA:117
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Microcornea, C... ORPHA:141099
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Alkaptonuria
Decreased glomerular filtration rate, Intervertebral disk degeneration, Nephrolithiasis, Kyphosis... OMIM:203500
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis OMIM:153400
Hydrolethalus Syndrome 1
Microphthalmia, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory sple... OMIM:236680
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Degcags Syndrome
Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, Hypospadias, Pancytopenia, Ambiguou... OMIM:619488
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Clinodactyly, Radial deviation of finger, Hypospadias, Kyphosis OMIM:609944
Neuroocular Syndrome
Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia o... OMIM:619539
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Plagiocephaly, Macrocephaly, Hematuria, Hypospadias, Genu valgum, Tapered distal... OMIM:619475
Neurofibromatosis Type 1
Delayed puberty, Macrocephaly, Genu valgum, Abnormal hip bone morphology, Slender long bone, Pheo... ORPHA:636
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Pheochromocytoma, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Par... ORPHA:653
Roberts Syndrome
Microphthalmia, Clitoral hypertrophy, Long penis, Thrombocytopenia, Cataract, Cryptorchidism ORPHA:3103
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Urinary incontinence, Kyphosis ORPHA:88644
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis... OMIM:256040
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia, Iris atrophy OMIM:201180
Charge Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Extern... OMIM:214800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple, Iris coloboma ORPHA:1236
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Thrombocytopenia, Splenomegaly, Generalized lympha... OMIM:615846
Stickler Syndrome
Genu valgum, Abnormal diaphysis morphology, Spondylolisthesis, Platyspondyly, Abnormal form of th... ORPHA:828
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ... OMIM:619381
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Accessory spleen, Long ... OMIM:268300
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentration, Hypopituitarism, ... OMIM:300942
Fraser Syndrome 1
Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Corneal opacity, Bicor... OMIM:219000
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Pallister-Hall Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrea... OMIM:146510
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b... ORPHA:2769
Rett Syndrome, Congenital Variant
Progressive microcephaly, Scoliosis, Kyphosis OMIM:613454
Sotos Syndrome
Ureteral duplication, Kyphosis, Congenital posterior urethral valve, Craniosynostosis, Abnormalit... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma ORPHA:3186
Frontofacionasal Dysplasia
Cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:229400
Oculodentodigital Dysplasia
Cataract, Microcornea, Microphthalmia OMIM:164200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto... ORPHA:2166
Primrose Syndrome
Brachycephaly, Delayed puberty, Macrocephaly, Genu valgum, Narrow iliac wing, Bilateral cryptorch... OMIM:259050
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Ramon Syndrome
Enlarged labia minora, Scoliosis, Decreased body weight, Kyphosis, Short stature OMIM:266270
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:99826
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Retinal coloboma, Ecto... OMIM:113620
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis OMIM:211530
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Antecubital... OMIM:609945
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Clitoral hypertrophy, Cardiomegaly, Hypospadias, Sclero... ORPHA:3472
Shprintzen Omphalocele Syndrome
Scoliosis, Decreased body weight, Kyphosis, Short stature, Lumbar hyperlordosis OMIM:182210
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Charge Syndrome
Optic atrophy, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid s... ORPHA:138
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Microcornea, Small scrotum, Cryptorchidism OMIM:616734
African Trypanosomiasis
Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Abnormal prolactin level, Papilledema, Hepatospl... ORPHA:3385
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Monosomy 13Q14
Cataract, Microphthalmia, Iris coloboma ORPHA:1587
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism, Supernumerary nipple, Iris coloboma OMIM:613884
Focal Dermal Hypoplasia
Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Cl... OMIM:305600
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Leukocytosis, Conjunctival hyperemia, Conjunctivitis, Thrombo... ORPHA:2331
Townes-Brocks Syndrome
Microphthalmia, Hypospadias, Rectovaginal fistula, Abnormal vagina morphology, Hypoplasia of peni... ORPHA:857
Myhre Syndrome
Cataract, Microphthalmia, Cryptorchidism OMIM:139210
Microphthalmia With Limb Anomalies
Optic atrophy, Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Fraser Syndrome
Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor... ORPHA:2052
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatomegaly, Genu valgum, Scoliosis, Kyphosis, Arachnodactyly ORPHA:394
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Cataract OMIM:309500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism, Opti... ORPHA:468631
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Microcornea, Axenfeld anomaly, Iris atro... ORPHA:261552
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias ORPHA:261112
Pallister-Hall Syndrome
Hydrometrocolpos, Microphthalmia, Hypospadias, Aplasia/Hypoplasia of the vagina, Small scrotum, P... ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Astigmatism, Hypospadias, Axenfeld anomaly, Bifid scrotum, Asplenia, Retinal colo... ORPHA:261537
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma OMIM:610828
Spondyloarthropathy, Susceptibility To, 1
Back pain, Sacroiliac arthritis, Kyphosis OMIM:106300
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Recurrent cystitis, Kyphosis, Splenomegaly, ... ORPHA:64
Plague
Mydriasis, Hepatomegaly, Lymphadenitis, Conjunctival hyperemia, Splenomegaly, Enlarged mesenteric... ORPHA:707
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ... OMIM:612289
Viss Syndrome
Brachycephaly, Rocker bottom foot, Butterfly vertebrae, Genu valgum, Contracture of the proximal ... OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo... ORPHA:99889
Marfan Syndrome
Spondylolisthesis, Cachexia, Scoliosis, Kyphosis, Arachnodactyly, Slender build, Dolichocephaly, ... ORPHA:558
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Bifid uterus, Cataract, Cryptorchidism OMIM:256520
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Cataract, Cryptorchidi... OMIM:235730
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Mowat-Wilson Syndrome
Microphthalmia, Astigmatism, Hypospadias, Axenfeld anomaly, Bifid scrotum, Asplenia, Retinal colo... ORPHA:2152
46,Xy Partial Gonadal Dysgenesis
Male infertility, Azoospermia, Hypergonadotropic hypogonadism, Primary amenorrhea, Streak ovary, ... ORPHA:251510
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Witteveen-Kolk Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Ani... OMIM:613406
17Q11 Microdeletion Syndrome
Delayed puberty, Diaphyseal dysplasia, Beaking of vertebral bodies T12-L3, Abnormality of the ver... ORPHA:97685
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Female hypogonadism, Scleroc... OMIM:607932
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Microphthalmia, Nuclear pulverulent cataract, Sutural cataract OMIM:612474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Pollakisuria, Urinary incontinence, Kyphosis ORPHA:171629
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Urinary incontinence, Kyphosis OMIM:619482
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing ORPHA:438213
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia, Retinal coloboma, Exocrine pancreatic insuffici... ORPHA:508488
Microphthalmia, Syndromic 1
Microphthalmia, Ciliary body coloboma, Hypospadias, Anophthalmia, Microcornea, Optic disc colobom... OMIM:309800
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Plcb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plcb1.

No publications found that use IMPC mice or data for Plcb1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Plcb1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plcb1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Plcb1tm42685(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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