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Gene: Nf1 MGI:97306

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Gene Summary

Name:
neurofibromin 1
Synonyms:
neurofibromin,  Dsk9,  Nf-1,  Mhdadsk9

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
preweaning lethality, complete penetrance Nf1tm1a(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

24 Images

View images
Legacy Phenotype Associated Images
Nf1tm1a(KOMP)Wtsi
body, HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
body, HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
HET, Male, WTSI

View all 126 images

Nf1tm1a(KOMP)Wtsi
thymus, heart, brown adipose tissue, HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
adrenal gland, mesenteric lymph node, HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
urinary bladder, spleen, kidney, liver middle lobe, HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
HET, Male, WTSI
Nf1tm1a(KOMP)Wtsi
stomach, large intestine, small intestine, HET, Male, WTSI

View all 48 images

Nf1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Nf1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Nf1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Nf1tm1a(KOMP)Wtsi
eye, corneal opacity, HET, Female, WTSI
Nf1tm1a(KOMP)Wtsi
eye, narrow eye opening, cornea/lens fusion, corneal opacity, HET, Female, WTSI

Human diseases caused by Nf1 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 predicted to be associated to Nf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma OMIM:118350
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
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
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma OMIM:606864
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Nf1-Microdeletion syndrome
Neurofibroma DECIPHER:15
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Partington Syndrome
Macroorchidism ORPHA:94083
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly OMIM:607685
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia ORPHA:90026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, H... OMIM:614470
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... OMIM:202700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
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
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm OMIM:601650
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... OMIM:601399
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... ORPHA:185
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Patent ductus... ORPHA:60041
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Anemia, Adrenocortical adenoma, Pheochromocytoma, ... ORPHA:139411
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion, Dyspnea ORPHA:48686
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery at... OMIM:601186
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Basal ce... ORPHA:2874
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect, Pr... ORPHA:101028
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... ORPHA:36412
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia OMIM:616435
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... ORPHA:1041
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... OMIM:616589
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Microcephaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac sep... OMIM:608776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Gombo Syndrome
Microphthalmia, Microcephaly, Abnormal heart morphology OMIM:233270
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circulating parathy... ORPHA:97685
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonado... ORPHA:652
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias OMIM:605724
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... OMIM:232300
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Hydranencephaly, Truncus arte... OMIM:601355
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Fragile X Syndrome
Macroorchidism ORPHA:908
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... OMIM:614702
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Myelodysplasia, Anemia of ... ORPHA:75564
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Ethanolaminosis
Cardiomegaly OMIM:227150
Liposarcoma
Sarcoma ORPHA:69078
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Polycys... OMIM:613885
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Anemia, Pulmonary fibrosis, Cirrhosis, Reticular p... OMIM:614742
Pheochromocytoma
Hemangioma, Neoplasm, Pheochromocytoma OMIM:171300
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Exerc... OMIM:201475
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc... ORPHA:401935
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Infertility ORPHA:261524
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Myelodysp... ORPHA:486
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con... OMIM:609029
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal... ORPHA:276621
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Congenital Macroglossia
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatomegaly, Scapular win... ORPHA:26791
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Spleno... ORPHA:464329
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Microcephaly, Cardiomegaly, Flexion contr... OMIM:616897
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Anemia OMIM:619151
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated c... ORPHA:100083
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertroph... OMIM:618815
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial... ORPHA:29072
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Mic... OMIM:614669
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetali... ORPHA:137667
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Stroke OMIM:602248
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, Abnormal lung lobation, Abnormal aortic morphology, Trun... ORPHA:2516
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Emphysema, Dyspnea, Bronch... OMIM:612387
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Perica... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Abnormality of the amniotic fluid... OMIM:608540
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve compression, Rib exos... OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Peripheral nerve compression, Rib exos... OMIM:133700
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Cardiomegaly, Jaundice, Hydrocephalus,... ORPHA:858
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia... OMIM:615583
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Glycogen Storage Disease Iv
Decreased fetal movement, Skeletal muscle atrophy, Polyhydramnios, Edema, Hydrops fetalis, Cardio... OMIM:232500
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, Pulmonary capilla... ORPHA:199241
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Neurofibromatosis Type 1
Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Chronic mye... ORPHA:636
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Cough, Mediastinal lymphadenopathy, Atelectasis,... OMIM:620233
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614962
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Anemia, Neoplasm of the liver, Thrombocyt... ORPHA:69077
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Emanuel Syndrome
Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus... ORPHA:96170
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Turcot Syndrome With Polyposis
Papilledema, Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, ... ORPHA:99818
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Rhinorrhea, Myocarditis, Oliguria, Pedal edema, Cardiorespirat... ORPHA:188
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Lymphedema, Periorbital edema, Vesicoureteral reflux, Atrial septal defect, Spina... OMIM:235510
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous ... OMIM:617478
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Granuloma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane... ORPHA:363700
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myo... ORPHA:292
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Stroke, Pallor ORPHA:90064
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Abnormal pulmonary ... ORPHA:77259
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... OMIM:617516
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Micropenis, Pectus excavatum OMIM:614684
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Dysp... ORPHA:67
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Dyspnea, Ray... ORPHA:93552
Thymoma
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobin synthesi... ORPHA:99867
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C... ORPHA:3426
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Lymphadenopathy, Pleural effusion OMIM:613011
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Respiratory distres... ORPHA:26793
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Ectopic kidney, Secondary microcephal... OMIM:613730
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... OMIM:600001
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... OMIM:616005
Hemochromatosis, Neonatal
Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro... OMIM:231100
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Kennedy Disease
Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... OMIM:618775
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Radial deviation of the 2nd finger, C... ORPHA:1388
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas... ORPHA:98849
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Microtia, Short mandibu... OMIM:141300
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor... OMIM:619824
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertens... OMIM:603278
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Increased... OMIM:616564
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size ORPHA:85273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microcephaly, Hydrocephalus, Flexion contracture, Abnormal left ventricular functio... OMIM:613155
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal ... OMIM:620070
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Peripheral nerve compression,... ORPHA:252183
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... ORPHA:662
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Cardiomyopathy, Elevated urine acet... OMIM:620089
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural e... ORPHA:90362
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Respiratory insufficiency, Arthrogryposis multiplex co... OMIM:615731
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Cryptorchidism, Hypogonadism,... OMIM:163950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... OMIM:162260
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... ORPHA:100093
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... OMIM:615297
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Increased nuchal translucency, Ve... ORPHA:453499
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Eng-Strom Syndrome
Pectus excavatum, Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of... ORPHA:1937
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Car... OMIM:256550
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... ORPHA:1163
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Cupped ear, Denta... OMIM:602483
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium... OMIM:615524
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Nonimmune hydrops fetalis... OMIM:212065
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... OMIM:610628
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Intracra... ORPHA:85212
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus... ORPHA:567
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Camptodactyly, Arthrogryposis multi... OMIM:617822
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Lymphatic Malformation 1
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... OMIM:153100
Lymphangioleiomyomatosis
Abnormal urinary color, Lymphedema, Cough, Emphysema, Atelectasis, Lymphadenopathy, Restrictive v... ORPHA:538
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar... ORPHA:3260
Infantile Sialic Acid Storage Disease
Ascites, Premature birth, Hydrops fetalis, Cardiomegaly OMIM:269920
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Pulmon... OMIM:300887
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Peripheral Cone Dystrophy
Pallor OMIM:609021
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal circulating hormone concentration, Pleural effu... ORPHA:314478
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... OMIM:619313
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... ORPHA:892
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Lymphocytosis, Hypochromic anemia... ORPHA:514
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Edema, Microcephaly, Asthma, Decreased liver function, Pleural ... OMIM:618606
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal ... ORPHA:166100
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Periorbital edema, Spl... ORPHA:33226
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Sh... OMIM:620369
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Alg9-Cdg
Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular ... ORPHA:79328
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Mediast... ORPHA:3392
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Ja... ORPHA:290
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... ORPHA:171
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... ORPHA:90186
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... OMIM:619573
Acrocardiofacial Syndrome
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypospa... ORPHA:2008
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Multicystic kidney dysplasia, Crossed fused renal ectopia, Anoph... ORPHA:2538
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Pallor, Generalized amyotrophy OMIM:613561
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Ascites, Hydrops fetalis, Skin ulcer ORPHA:834
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Acute leukemia, Type II diabe... ORPHA:99812
Mulibrey Nanism
Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Pericardial constriction, Ascites OMIM:253250
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size OMIM:614897
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dicarboxylic aciduri... ORPHA:71212
Platelet Disorder, Undefined
Neuroblastoma, Thrombocytopenia, Hematological neoplasm OMIM:173420
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Dyspnea,... ORPHA:35687
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract... ORPHA:163976
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate ORPHA:141152
Zygomycosis
Sinusitis, Periorbital edema, Abnormal cranial nerve morphology, Acute infectious pneumonia, Coug... ORPHA:73263
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
Medulloblastoma
Medulloblastoma OMIM:155255
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Poems Syndrome
Papilledema, Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymph... ORPHA:2905
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Hematuria, Prolonged QTc interval, Petechiae ORPHA:231111
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Microcephaly ORPHA:3434
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Recurrent respiratory infections, Abnormal heart valve ... ORPHA:77261
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Testicular neoplasm, Hema... ORPHA:71505
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular bloc... ORPHA:509
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Edema, Microcephaly, Pericardial effusion, ... OMIM:615846
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hypoplastic le... OMIM:220210
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Microcephaly, Abnormality of the pancreas, Hydro... ORPHA:1926
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma ORPHA:661
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Gorham-Stout Disease
Torticollis, Elevated alkaline phosphatase of bone origin, Edema, Lymphangioma, Pleural effusion,... ORPHA:73
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Dental crowding, Cleft helix, Hamar... ORPHA:137888
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... ORPHA:542323
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Microcephaly, Atrial septal defect, Microphthalmia ORPHA:3469
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Myeloproliferat... ORPHA:79456
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect, Pallor ORPHA:49827
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular pulmonary... OMIM:212093
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased testicular size OMIM:300869
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Glomerulonephritis, Bronchi... ORPHA:1304
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... ORPHA:57777
Breath-Holding Spells
Pallor OMIM:607578
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios ORPHA:1263
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... OMIM:162210
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Myositis, M... ORPHA:117
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Ectopic kidney, Pericardial effusion, ... ORPHA:2136
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, Splenomegaly, ... OMIM:181000
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Myelodysplasia, Cryptorchidism, Acute lymphoblast... OMIM:606593
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... OMIM:251880
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Facial palsy, Carcinoid tumor ORPHA:100084
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Abnormality of t... ORPHA:1387
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal bleeding, Epistaxis, Ed... ORPHA:167
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Cutis laxa, Macroglossia, Camptodactyly, Premature skin ... ORPHA:79325
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Decreased fertility, Hypogonadism, Decreased testicular size ORPHA:2234
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Underfolded helix, Type A brachydactyly, Cleft soft palate, Accesso... OMIM:620107
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Furrowed tongue ORPHA:2743
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia OMIM:206700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Dehydration, Nephrocalcinosis, Aminoaciduria, Elevated gamma-glutamyltransf... OMIM:208085
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Bilateral renal hypoplasia, Abnormal lung lobation, Vesicou... ORPHA:508488
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Optic Atrophy 1
Pallor OMIM:165500
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dila... ORPHA:367
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, ... OMIM:611134
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Lambert Syndrome
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi... ORPHA:1296
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Abnormal bleeding, Abnormality of the br... ORPHA:1900
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... ORPHA:902
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Polyhydr... OMIM:229850
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Respiratory insufficien... ORPHA:1166
Renal Tubular Dysgenesis
Tetralogy of Fallot, Premature birth, Polyhydramnios, Oligohydramnios ORPHA:3033
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Cystoid macular edema OMIM:611040
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy ORPHA:496689
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... ORPHA:51608
Ataxia-Telangiectasia
Non-Hodgkin lymphoma, Diabetes mellitus, Female hypogonadism, Lymphoma, Bronchiectasis, Hodgkin l... OMIM:208900
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Abnormal bleeding, Ventricular septal... OMIM:614576
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Recurrent pneumonia, Hepa... OMIM:618935
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... ORPHA:221
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Increased nuchal translucency, Renal hypopl... OMIM:618494
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Brachydactyly, Posteriorly rotated ears, Single transverse palmar creas... OMIM:613604
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, ... ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Respiratory distress, Elevated circ... OMIM:256810
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal ... OMIM:256000
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... OMIM:617022
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:95619
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Splenic rupture, Abnormal umbilical stump bleeding, Prolonged pro... ORPHA:335
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Splenomegaly, Peritonitis, Stage 5 chronic kidney disease, Nephrotic ... OMIM:249100
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca... ORPHA:99776
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:613224
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Low-... OMIM:258850
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... OMIM:613443
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Whistling Face Syndrome, Recessive Form
Narrow mouth, Whistling appearance, Elbow flexion contracture, Ulnar deviation of finger, High pa... OMIM:277720
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... ORPHA:90674
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hem... OMIM:618183
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... ORPHA:1972
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... ORPHA:90363
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Pectus exc... OMIM:618278
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secon... OMIM:618652
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Leukemia, Supernumerary nipple, Myelodysplasia OMIM:619951
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... OMIM:227270
Nanophthalmos 4
Microphthalmia OMIM:615972
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Auriculocondylar Syndrome 3
Glossoptosis, Question mark ear, Bifid uvula, Bilateral conductive hearing impairment OMIM:615706
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal... OMIM:231680
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresi... OMIM:306955
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... OMIM:613870
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... OMIM:620278
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Myocar... ORPHA:50918
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertr... OMIM:619053
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Branchial fistula, Ventricular septal def... ORPHA:261330
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... OMIM:618805
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Coccidioidomycosis
Respiratory distress, Renal insufficiency, Pericarditis, Pneumonia, Abnormality of the spleen, Pe... ORPHA:228123
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... OMIM:618164
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... OMIM:620244
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal hamartoma, Ependymoma, Gingival... OMIM:613254
Seckel Syndrome 2
Few cafe-au-lait spots, Microdontia, Microglossia, Clinodactyly of the 5th finger OMIM:606744
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Resp... ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Fetal pleural effusion,... OMIM:620167
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Aplasia/Hypoplasia of the a... ORPHA:3099
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Brachydactyly ORPHA:2928
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Neonata... OMIM:608978
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:600901
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... OMIM:613404
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... ORPHA:361
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Microcephaly OMIM:614249
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... ORPHA:3243
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Cap Myopathy
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... ORPHA:171881
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly ORPHA:391646
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Epilepsy, Progressive Myoclonic, 9
Short thumb, Microglossia OMIM:616540
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hellp Syndrome
Elevated hepatic transaminase, Pulmonary edema, Proteinuria, Cerebral hemorrhage, Hemoglobinuria,... ORPHA:244242
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cronkhite-Canada Syndrome
Intestinal polyposis, Generalized hyperpigmentation, Tapered finger, Malabsorption, Hypogeusia, F... ORPHA:2930
Lelis Syndrome
Carious teeth, Perioral hyperpigmentation, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodont... ORPHA:140936
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... OMIM:618316
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase co... OMIM:614921
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Atelectasis, Dyspnea, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus arteriosus, Pulmonary seq... OMIM:618330
Ovarian Fibroma
Mesenteric cyst, Pleural effusion, Ascites, Peritonitis ORPHA:314473
Hartnup Disorder
Glossitis OMIM:234500
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Frontonasal Dysplasia 1
Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Camptodact... OMIM:136760
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... ORPHA:2970
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Posteriorly rotated ears, Arachnodactyly, Long palm, Abnormality of the philtrum, Aplasia/Hypopla... ORPHA:2759
Trisomy 13
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Hyd... ORPHA:3378
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Renal hypoplasia, Atrial septal... OMIM:612946
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Fusariosis
Myositis, Sinusitis, Lung abscess, Pneumonia, Productive cough, Abnormality of the spleen, Perito... ORPHA:228119
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Microcephaly, Pectus excavatum, Splenomegaly, ... OMIM:613563
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Microcephaly, Hypoplasia of the musculature, Abnormal heart morphology ORPHA:85323
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... OMIM:616816
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... ORPHA:370959
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcification OMIM:608189
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227650
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus exc... ORPHA:2847
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Pectus excavatum, Prominent veins on trunk, Mitral... ORPHA:536532
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, ... OMIM:210900
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Horseshoe kidney, Renal cyst, Intrahepatic bi... OMIM:614815
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure ORPHA:331
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur... OMIM:253800
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... OMIM:620210
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Glioma, B... ORPHA:647
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Conductive hearing imp... OMIM:252100
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Spina bifida oc... ORPHA:230839
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Micronodular cir... OMIM:606003
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia... OMIM:260400
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Microcephaly, Optic atrophy, Chylothorax, Atrial septal defect, ... ORPHA:2526
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus OMIM:616155
Myhre Syndrome
Ventricular septal defect, Microcephaly, Pericardial effusion, Patent ductus arteriosus, Generali... OMIM:139210
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Abnormality of the amniotic fluid OMIM:609015
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect, Hepatic ... OMIM:263630
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Micropenis, Testicular... OMIM:308700
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Respiratory insufficiency, Membranous subvalvular aortic stenosis, Sub... ORPHA:3191
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, M... ORPHA:221008
Digeorge Syndrome
Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Atelectasis, Patent duct... OMIM:188400
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephr... ORPHA:358
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Patent ductus arterios... ORPHA:2547
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Dyspnea, Effort-indu... ORPHA:3282
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... ORPHA:210122
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Pectus excavatum, Tetralogy of Fallot, Supravalvular a... OMIM:618624
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Microceph... OMIM:616651
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cupped ear, Cleft palate, Protruding ear, Glo... OMIM:616367
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnorma... ORPHA:33276
Hemoglobin D Disease
Pallor ORPHA:90039
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, ... ORPHA:1307
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho... OMIM:615630
Ring Chromosome 22 Syndrome
Lymphedema, Pleural effusion, Edema, Microcephaly ORPHA:1446
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Hypoglossia With Situs Inversus
High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... OMIM:618300
Meckel Syndrome 14
Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Ca... OMIM:619879
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Facioscapulohumeral Muscular Dystrophy 1
Scapular winging, Sensorineural hearing impairment, Shoulder girdle muscle weakness, Tongue atrophy OMIM:158900
Hartnup Disease
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis ORPHA:2116
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Non-midline cleft lip, Orofacial clef... ORPHA:1752
Sarcoidosis
Heart block, Abnormal lung morphology, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstit... ORPHA:797
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Refsum Disease
Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Respiratory insufficienc... ORPHA:773
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Respiratory insufficiency, Muscular dystrophy, Left ventricular hypertrophy, Micro... OMIM:613153
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Bloom Syndrome
Acute myeloid leukemia, Malignant genitourinary tract tumor, Decreased proportion of CD4-positive... ORPHA:125
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl... ORPHA:2020
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Dilated cardiomyopathy, Hydrops fetalis, Cherry red spot of the ... OMIM:230500
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus ORPHA:83473
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Uraciluria, Microphthalmia, Reduced dihydropyrimidine dehydrogenase ... OMIM:274270
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Dys... ORPHA:231226
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Camptodactyly of finger, Patent ductus arteriosus, Ap... ORPHA:354
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Basal cell ca... ORPHA:221016
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227645
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy... OMIM:619167
Fetal Encasement Syndrome
Decreased fetal movement, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... OMIM:620269
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Microphthalmia OMIM:251270
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Asthma, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthro... OMIM:614262
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... ORPHA:3241
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Intellectual Developmental Disorder, Autosomal Dominant 58
Few cafe-au-lait spots, Dental crowding, Posteriorly rotated ears, Single transverse palmar creas... OMIM:618106
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Pulmonary ar... OMIM:301056
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Rothmund-Thomson Syndrome
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas... ORPHA:2909
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Vesicoureteral reflux, Hors... OMIM:115470
Proteus Syndrome
Lymphangioma, Splenomegaly, Venous malformation OMIM:176920
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Abnormal mesentery morphology, Re... ORPHA:2256
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue,... ORPHA:2167
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... OMIM:608149
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Sensorineural hearing impairment,... ORPHA:440354
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus a... ORPHA:1272
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Fibroma, Hypothyroidism OMIM:619750
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Redundant neck skin, Ventricular septal ... OMIM:190685
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Optic atrophy, Renal cyst, ... OMIM:614424
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Neonatal respiratory distress, Polyhydramnios, Type 1 muscle fiber atrophy, T... OMIM:619036
Cofs Syndrome
Camptodactyly of finger, Microcephaly, Optic atrophy, Microphthalmia, Arthrogryposis multiplex co... ORPHA:1466
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Microcephaly, Pectus excavatum, Muscular ventricular... OMIM:612474
Infection-Related Hemolytic Uremic Syndrome
Anuria, Pneumonia, Edema, Respiratory tract infection, Myocarditis, Pancreatitis, Dyspnea, Oligur... ORPHA:544482
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Renal hypoplasia, Small thenar eminence, Umbilical hernia, Joint contracture of th... OMIM:618914
Hypoglossia-Hypodactylia
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia OMIM:103300
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, H... ORPHA:90062
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for... OMIM:619189
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Fanconi Anemia, Complementation Group N
Aplastic anemia, Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia OMIM:257300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Single umbilical artery, Increas... ORPHA:1865
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegal... OMIM:615673
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Edema, Respiratory tract infection, Hydrocep... ORPHA:93400
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Microcephaly, Flexion contr... OMIM:254940
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... ORPHA:284227
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Abnormal cranial nerve mo... ORPHA:228399
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Recurrent respiratory infections, Mic... OMIM:612541
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Patent ductus arteri... ORPHA:500159
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, Splenomegaly, Jaundice, Dilated cardi... ORPHA:231214
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymph... OMIM:306400
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microcephaly, Interrupted aor... OMIM:616920
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Hypopigmentation of... ORPHA:98795
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Decreased fetal movement, Double outlet right ventricle, Patent ductus arte... OMIM:614886
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Furrowed tongue OMIM:301845
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... OMIM:305620
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital diaphragmatic hernia... ORPHA:2059
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Pulmonary hypoplasia, Neonatal dea... OMIM:253310
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Neoplasm of the nervous system, Ganglioneuroblastoma ORPHA:2151
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Acquired Hypertrichosis Lanuginosa
Macroglossia, Hypopigmentation of hair, Glossitis ORPHA:2221
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Optic disc hypoplasia, Aganglionic megacolon, Spina bifi... OMIM:607323
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni... ORPHA:139466
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Stevenson-Carey Syndrome
Central hypoventilation, Left superior vena cava draining to coronary sinus, Camptodactyly, Atria... OMIM:611961
22Q11.2 Duplication Syndrome
Ventricular septal defect, Microcephaly, Urethral stenosis, Aplasia/Hypoplasia of the thymus, Hyp... ORPHA:1727
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Abnormally large globe, Hydrocephalus, Vascul... OMIM:603387
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High palate, Conduct... ORPHA:2751
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Edema, Minimal change glomer... OMIM:618348
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Respiratory failure, Perimembranous ventricular septal defect... OMIM:618804
Optic Atrophy 8
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi... OMIM:616648
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Aminoaciduria, ... OMIM:249270
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe... OMIM:618580
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Mit... OMIM:612561
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma OMIM:606764
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Dextrocardia, Microcephaly, Renal hypoplasia, Congenital cont... OMIM:248700
Lissencephaly 8
Skeletal muscle atrophy, Occipital encephalocele, Microcephaly, Optic atrophy, Microphthalmia OMIM:617255
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... OMIM:212140
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Pa... OMIM:235255
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Abnormal cranial nerve ... ORPHA:2345
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Microcephaly, Patent ductu... ORPHA:452
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis, Muscular dystrophy ORPHA:88618
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Polyhydramnios ORPHA:261272
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Optic atrophy, Abnormal heart morphology, Vesicoureteral ... ORPHA:494344
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... OMIM:606631
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... OMIM:175500
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... OMIM:200990
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Po... OMIM:173900
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... ORPHA:97214
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal... ORPHA:906
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of ... ORPHA:2092
Charcot-Marie-Tooth Disease, Type 4C
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T... OMIM:601596
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Pectus excavatum... ORPHA:2463
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Horsesh... OMIM:619318
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Dermal transl... OMIM:137940
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Tarp Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... OMIM:311900
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... ORPHA:488618
Joubert Syndrome 15
Micropenis, Exencephaly, Nephronophthisis OMIM:614464
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Complete atrioventricular c... OMIM:264480
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Limited elbow movement, Narrow mouth, Calcaneovalgus deformity, Elbow flexion con... OMIM:615065
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Apl... ORPHA:2255
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Acute megakaryocytic leukemia ORPHA:870
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Patent ductus arterios... ORPHA:77298
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Pectus excavatum, Mitral valve prolapse, Ascending... OMIM:616166
Spondylo-Ocular Syndrome
Facial hypotonia, Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Fetal Trimethadione Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Transposition of the great arteries, Atrial... ORPHA:1913
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Accessory oral frenu... OMIM:277170
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Cryp... OMIM:305000
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Micropenis, Microphthalmia, Aortic... OMIM:243310
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Posteriorly rotated ears, Single transverse palmar crease, Tapered finger, Prominent crus of heli... OMIM:617804
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull... OMIM:112200
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... OMIM:615668
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:66628
Diamond-Blackfan Anemia
Acute myeloid leukemia, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia, Neutropenia,... ORPHA:124
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Optic atrophy, Optic disc pallor, Microcephaly OMIM:616171
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... ORPHA:2712
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow palate, Abnormal ... ORPHA:436003
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Simple Cryoglobulinemia
Viral hepatitis, B-cell lymphoma, Abnormal lung morphology, Chronic lymphatic leukemia, Multiple ... ORPHA:91139
Cohen Syndrome
High, narrow palate, Abnormality of skin pigmentation, Short philtrum, Clinodactyly of the 5th fi... ORPHA:193
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Microcephaly ORPHA:2772
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormally large globe, Pancreatic lymph... ORPHA:1655
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Hypospadias, Microcephaly, Penoscrotal transposition, Patent ductus arteriosus, An... OMIM:619148
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Vesicoureteral reflux, Renal hyp... OMIM:609053
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Patent ductus arteri... OMIM:617751
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227646
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Microcephaly OMIM:618506
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Muscular dystrophy OMIM:614830
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Microcephaly ORPHA:357225
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Uri... ORPHA:90324
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:254900
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Proximal amyotrophy, Mitral valve prolapse,... OMIM:606408
Farber Disease
Skeletal muscle atrophy, CNS foam cells, Flexion contracture, Hydrops fetalis, Joint swelling, Ch... ORPHA:333
2Q24 Microdeletion Syndrome
Central apnea, Microphthalmia, Camptodactyly of finger ORPHA:1617
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Hydrocephalus, Urethral atresia, Transposition of the great arterie... OMIM:314390
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... ORPHA:500
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... OMIM:610644
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral... ORPHA:7
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Neonatal respiratory distress, Ventricular septal defect, Tricuspid regurgitati... OMIM:618870
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Pectus excavatum, Pulmo... OMIM:612530
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At... OMIM:613001
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype... OMIM:620005
Tetraamelia Syndrome 2
Bilateral cleft lip, Cleft palate, Glossoptosis, Low-set ears, Ankyloglossia OMIM:618021
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Congenital muscular dystrophy, Hydrocephalus ORPHA:324416
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydrocephalus, Me... ORPHA:1908
Mitral Valve Prolapse 1
Pectus excavatum, Mitral regurgitation, Mitral valve prolapse OMIM:157700
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Patent ductus arter... OMIM:269860
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Pe... ORPHA:1101
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasi... ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Bil... ORPHA:100085
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Dyspnea, Respiratory failure, Chylothorax, Pl... ORPHA:3015
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Anterior pituitary hypoplasia OMIM:616113
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Arthrogryposis-li... ORPHA:369891
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Urinary incontinence, Foot dorsiflexor weakness, Mitral valve prolapse ORPHA:98
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Tetralo... ORPHA:2328
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Glossoptosis, High palate, Conductive hearing impairment, Rhizom... OMIM:611209
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Apnea, Rhabdomyosarcoma, Microcephaly, Polyhy... ORPHA:1052
Noonan Syndrome 2
Cryptorchidism, Leukemia OMIM:605275
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Hydrop... ORPHA:268249
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Hypopigmentation of... ORPHA:411511
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse, Restrictive v... OMIM:247410
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Hydrops fetalis, Macroglos... OMIM:253220
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Recurrent pneumonia, Pulmonary arterial hyp... ORPHA:464738
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Microcephaly, Pectus ex... OMIM:147791
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary v... ORPHA:2162
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Microcephaly, Bilateral microphthalmos, Elbow flexion contracture, Knee ... OMIM:610758
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Abn... ORPHA:163956
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment, Microglossia, ... OMIM:202650
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with 46,XY karyotyp... ORPHA:90791
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger, Acute rhabdomyolysis, Abnormality of peripheral nerve co... ORPHA:48431
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Spina bifida occ... OMIM:201000
Galactosialidosis
Cherry red spot of the macula, Nonimmune hydrops fetalis OMIM:256540
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Mandibuloacral Dysplasia
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Abnormality of skin pigmentatio... ORPHA:2457
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Optic atrophy, Vesicoureteral reflux, Atrial septal defect, Patent for... OMIM:614261
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration ORPHA:1667
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microph... ORPHA:1528
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hydrops fetalis, Macroglossia, Cardiomyopathy, Abnormal placenta m... ORPHA:79255
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Edema, Flexion contracture, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Microcephaly, Flexion contracture, Abno... ORPHA:79243
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Flexion contracture, Elbow flexion contracture, Recurrent pneumonia, Dehydration, K... OMIM:214150
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Microcephaly, Recurrent upper respiratory tract infections, Optic atro... ORPHA:3078
Irida Syndrome
Pallor ORPHA:209981
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... ORPHA:2752
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... OMIM:606721
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... ORPHA:730
Filippi Syndrome
Optic atrophy, Ventricular septal defect, Microcephaly OMIM:272440
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral... OMIM:620025
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of ... ORPHA:201
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased fe... ORPHA:90796
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Microcephaly, Neonatal asphyxia, Heart murmur, Multiple bladder diverticula, Atrial ... ORPHA:2728
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe OMIM:618504
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Pallor, Generalized limb muscle atrophy OMIM:600462
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Mitral valve prolapse ORPHA:2183
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... ORPHA:891
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Femoral-Facial Syndrome
Ventricular septal defect, Micropenis, Polycystic kidney dysplasia, Pulmonic stenosis, Truncus ar... OMIM:134780
Periventricular Nodular Heterotopia 7
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis, Budd-Chiari s... OMIM:127550
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierre-Robin sequence, ... ORPHA:1358
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hypoplasia of the musculature, Microcephaly, Hydrocephalus, Hydranencephaly, Join... OMIM:225790
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Non-Functioning Paraganglioma
Pallor, Cerebral hemorrhage ORPHA:94080
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Horseshoe kidney OMIM:218350
3Q29 Microdeletion Syndrome
Hypospadias, Microcephaly, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pulmonar... ORPHA:65286
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Suleiman-El-Hattab Syndrome
Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect, Microcephaly, Atr... OMIM:618950
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Accessory spleen, Malformation of the hepatic ductal plate, Pa... OMIM:249000
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Optic atrophy, Limb hypertonia, Microphthalmia, Oligohydramnios OMIM:614219
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Pectus excavatum of inferior sternum, Ventricular septal... OMIM:610733
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarctation of aorta, Total a... ORPHA:261183
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Recurrent pneumonia, Pulmonary arterial hyp... OMIM:616449
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Microcephaly, Patent ductus arteriosus, Vesicoureteral reflux, Renal h... OMIM:603467
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Microcephaly,... ORPHA:912
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Myocardial infarction, Pectus excavatum, Methioninuria, Mitral valve prolapse,... OMIM:236200
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Cleft palate, Postaxial... OMIM:241800
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology ORPHA:79329
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... ORPHA:2001
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis, Microcephaly ORPHA:3306
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Pleuritis, Mitral regurgitation, Ca... ORPHA:2848
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Secondary microcephaly ORPHA:3369
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Abnormality of the ureter, C... ORPHA:52
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Edema, Flexion contracture, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Hyp... OMIM:608572
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septal defect, Intrahepatic biliary ... OMIM:614866
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Pectus excavatum, Patent ductus a... ORPHA:329224
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophi... OMIM:615279
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... ORPHA:465508
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Centra... ORPHA:2754
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Proteinuria ORPHA:2143
Pierpont Syndrome
Microphthalmia, Micropenis, Microcephaly OMIM:602342
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Microcephaly ORPHA:398156
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Pectus excavatum, Knee flexion contracture, Camptodactyly, Microphthalmia OMIM:619694
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Congenital diaphragmatic hernia, Microcephaly ORPHA:1915
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Pleural effusion, Acute kidney in... ORPHA:29073
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Renal hypoplasia, Neo... ORPHA:85284
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Polyhydramnios, Coarctation of aorta, Abnormal aortic mor... ORPHA:1923
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Phimosis, Urinary bladder inflammation, Dyspnea, Flexion contractu... ORPHA:99921
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... ORPHA:100086
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Cam... OMIM:619980
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Optic atr... ORPHA:85202
Otospondylomegaepiphyseal Dysplasia
Short metacarpal, Posteriorly rotated ears, Sandal gap, Sensorineural hearing impairment, Cleft p... ORPHA:1427
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Pectus excavatum, Pulmonic stenosis, Atrial septal defect OMIM:615102
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Microc... OMIM:309801
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Myelopathy, Functional ab... ORPHA:79093
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cerebra... OMIM:617713
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Microcephaly, Mitral regurgitation,... ORPHA:254346
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... ORPHA:2912
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Vesicoureteral reflux... OMIM:615879
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema ORPHA:75508
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Diabetes mellitus, Abnormality of the pulmonary vasculature ORPHA:33001
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Cough, Abno... ORPHA:99868
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Shoulder muscle hypop... ORPHA:1826
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly ORPHA:3137
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horses... ORPHA:2470
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bones, Aplasia/hyp... ORPHA:93346
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast... ORPHA:84064
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Pectus excavatum, Mitral valve prolapse, Mitral regurgitation, Bruising sus... OMIM:225320
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Coarctation of aorta, Prolonged prothrombin time, Pulmoni... OMIM:616559
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Irregular hyperpigmentation, Congestive heart failure, Edema ORPHA:2505
Fanconi Anemia
Abnormality of the liver, Atrial septal defect, Hypospadias, Spina bifida, Patent ductus arterios... ORPHA:84
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microcephaly... OMIM:619418
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Sandhoff Disease, Infantile Form
Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgita... ORPHA:309155
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Facial hypotonia OMIM:614526
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Hypospadias, Ventricular septal defect, Polyhydramnios, Abnor... OMIM:222470
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... OMIM:616777
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Microcephaly, Hydrocephalus, Abnormal... ORPHA:899
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Pectus excavatum, Patent forame... OMIM:618027
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Microcephaly... ORPHA:3380
Dravet Syndrome
Pallor ORPHA:33069
Dubowitz Syndrome
Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma OMIM:223370
Angelman Syndrome
Protruding tongue, Blue irides, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair, Hypopig... OMIM:105830
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... OMIM:619534
Giant Cell Arteritis
Pericarditis, Vasculitis, Skin ulcer, Aortic dissection, Double outlet right ventricle with subpu... ORPHA:397
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Pierpont Syndrome
Microphthalmia ORPHA:487825
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Microcephaly, Asplenia, Abdominal situs inversus, Pulmonic stenosis, C... OMIM:619123
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Renal corticomedul... OMIM:219730
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Ve... ORPHA:2461
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Pectus excavatum, Coron... OMIM:614294
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr... OMIM:208150
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... ORPHA:1507
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Brachydactyly, Diastema, Protruding ear, Short foot, Furrowed tongue, L... OMIM:300534
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus ... OMIM:300868
Codas Syndrome
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect ORPHA:1458
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Dubowitz Syndrome
Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Lymphoma, Acute... ORPHA:235
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Microcephaly, Pectus excavatum, Horseshoe kidney, C... OMIM:272950
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema, Acute leukemia ORPHA:289
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur, Renal cyst, Horseshoe kidney, Abnormal vena cava morphology ORPHA:166035
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... ORPHA:3071
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy, Microcephaly OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Hydrocephalus, Muscular dystrophy OMIM:615181
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos OMIM:615085
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Microcephaly, Paten... OMIM:220500
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy OMIM:620285
Chops Syndrome
Ventricular septal defect, Tracheomalacia, Microcephaly, Splenomegaly, Patent ductus arteriosus, ... OMIM:616368
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... ORPHA:77293
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... OMIM:619461
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc... OMIM:614816
1Q21.1 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Interr... ORPHA:250989
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Patent ductus arteriosus, Hor... OMIM:613680
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Ventricular septal defect, Microcephaly, Patent ductus arteriosus,... ORPHA:457193
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Hyperpigmented streaks, Ventricular tachycardia, Histiocy... OMIM:300952
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo... OMIM:601808
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... OMIM:265000
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... ORPHA:2876
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Microcephaly, Pectus excavatum, Stage 5 chronic ... OMIM:617729
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Brachydactyly, Type B1
Micropenis, Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios OMIM:616546
Vitreoretinochoroidopathy
Microphthalmia, Pigmentary retinopathy, Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, C... OMIM:619343
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Microcephaly, Hydrocephalus, Abn... ORPHA:2166
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ... ORPHA:1488
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect, Microcephaly OMIM:617635
Kleefstra Syndrome 1
Natal tooth, Abnormal pinna morphology, Single transverse palmar crease, Hearing impairment, Pers... OMIM:610253
Woods Syndrome
Optic atrophy, Ventricular septal defect OMIM:615236
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Microcephaly, Abnormal lactate dehydrogenase level, Optic atrophy, Myopa... ORPHA:559
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... ORPHA:261494
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Pachyonychia Congenita 3
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... OMIM:615726
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... ORPHA:90652
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Vasculitis, Ascending tubular ... ORPHA:2331
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy, Ventricular septal defect, Microcephaly OMIM:234050
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Glossoptosis, Cleft palate OMIM:618356
Martsolf Syndrome 1
Recurrent respiratory infections, Cardiac arrest, Microcephaly, Pectus excavatum, Congestive hear... OMIM:212720
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Sensorineural hearing impairment, Alveolar ridge overgrowth, Cleft palate, Dru... OMIM:612938
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Abnormal heart morphol... ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Pectus excavatum, Aort... ORPHA:2072
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Pectus excavatum, Aortic root aneurysm, Mitral regurgitation, Camptoda... OMIM:301039
Monosomy 18P
Lymphedema, Pectus excavatum, Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia ORPHA:1598
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 75
Pallor OMIM:617023
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia ... ORPHA:958
Lateral Meningocele Syndrome
Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Pect... OMIM:130720
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Rocker bot... ORPHA:2886
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Cleidocranial Dysplasia
Delayed eruption of teeth, Brachydactyly, Abnormal dental enamel morphology, Tapered finger, Abno... ORPHA:1452
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Microcephaly, Secundum atrial septal defect, Congenital lobar overinfl... OMIM:600987
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... OMIM:268310
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protrud... OMIM:212066
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Complete atrioventricul... OMIM:236680
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Repeated pneumothoraces,... OMIM:617602
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Brachydactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Age... OMIM:616894
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
X-Linked Agammaglobulinemia
Glossoptosis, Sensorineural hearing impairment, Hypopigmented skin patches, Malabsorption ORPHA:47
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Neonatal respiratory distress, ... OMIM:214100
Developmental And Epileptic Encephalopathy 1
Dyspnea, Microphthalmia, Micropenis, Microcephaly OMIM:308350
Cold Agglutinin Disease
Pallor ORPHA:56425
Pelvis-Shoulder Dysplasia
Syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Fifth finger distal phalanx clino... ORPHA:2839
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect, Microcephaly OMIM:245552
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... ORPHA:2750
Boudin-Mortier Syndrome
Pectus excavatum, Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valv... OMIM:619543
Beck-Fahrner Syndrome
Facial hypotonia, Microcephaly, Ventricular septal defect, Cardiomegaly OMIM:618798
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate ORPHA:313892
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Nephroblastoma, Ependymoma, Annular pancreas, Recurrent pn... ORPHA:798
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial s... ORPHA:2519
Fumarase Deficiency
Bilateral fetal pyelectasis, Polyhydramnios, Perimembranous ventricular septal defect, Pallor, As... OMIM:606812
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Ventricular septal defect, Microcephaly OMIM:609654
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart,... OMIM:617660
Frank-Ter Haar Syndrome
Umbilical hernia, Camptodactyly of finger, Mitral valve prolapse ORPHA:137834
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia ORPHA:75389
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Increased serum serotonin, Atypical pulmonary carcin... ORPHA:100080
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Pectus excavatum, Dyspnea, ... ORPHA:555877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Respiratory insufficiency due to muscle weakness, Hydroceph... OMIM:615249
Pallister-Hall Syndrome
Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kidney, Patent ductu... OMIM:146510
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Hydrocephalus, Telangiecta... OMIM:612582
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Abnorm... OMIM:300514
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97283
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pulmonary artery s... OMIM:100300
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosi... OMIM:611812
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Optic atro... OMIM:615663
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... OMIM:253200
Ehlers-Danlos Syndrome, Classic Type, 1
Pectus excavatum, Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Umbilical her... OMIM:130000
Chronic Thromboembolic Pulmonary Hypertension
Neoplasm, Myeloproliferative disorder ORPHA:70591
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Pectus excavatum, Microphthalmia, Abnormal heart morphology OMIM:618571
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Microcephaly, Pectus excavatum, Patent ductus arteri... OMIM:617061
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Abnorma... ORPHA:42775
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia OMIM:603194
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... OMIM:167800
Cousin Syndrome
Clinodactyly of the 5th finger, Wrist flexion contracture, Dislocated radial head, Rhizomelia, Hu... OMIM:260660
Elliptocytosis 1
Pallor OMIM:611804
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Left ventricular hypertrophy, Edema, Cardiomegaly, Polyhydramnios,... ORPHA:79330
Sepsis In Premature Infants
Premature birth, Edema, Pallor, Caesarian section, Petechiae, Purpura ORPHA:90051
Cranioectodermal Dysplasia 2
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Cutis laxa, Atrial septal defect, Left... OMIM:613610
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Ascites OMIM:602361
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Joubert Syndrome 37
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... ORPHA:743
Degcags Syndrome
Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Pate... OMIM:619488
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
3Q29 Microduplication Syndrome
Ventricular septal defect, Microcephaly, Aniridia, Camptodactyly of toe, Microphthalmia ORPHA:251038
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Microcephaly, Skeletal muscle hypertrophy, Micropenis, Penoscrotal hyp... OMIM:617164
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... ORPHA:141127
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dry skin, Joint contracture of the hand, Ca... OMIM:280000
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Fg Syndrome Type 1
Progressive flexion contractures, Hypospadias, Optic nerve hypoplasia, Hydrocephalus, Coarctation... ORPHA:93932
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Microcephaly, Pectus excavatum, Splenome... OMIM:618268
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor, Edema, Dehydration ORPHA:20
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Renal tubular dys... ORPHA:506
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Hypospadias, Ankle flexion co... ORPHA:464311
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo... ORPHA:100991
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:609942
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Polydactyly ORPHA:531151
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Ventricular septal defect OMIM:147800
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Ovarian neoplas... ORPHA:744
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Noonan Syndrome 13
Lymphedema, Microcephaly, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Brui... OMIM:619087
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Hypopigmentation of... ORPHA:98794
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Cohen Syndrome
Optic atrophy, Microcephaly, Facial hypotonia, Mitral valve prolapse OMIM:216550
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Mitral valve prolapse, Pedal edema, Macroglossia, Varicose... OMIM:617107
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Neonat... OMIM:612289
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con... OMIM:619503
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale, Secondary mi... OMIM:614961
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Pectus excavatum, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic ro... OMIM:616914
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Polyhydramnios, Pectus excavatum, Mitral valve prolapse, ... OMIM:619745
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Polyhydramnios, Spina bifida, Patent ductus arteriosu... OMIM:256520
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611561
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... ORPHA:2369
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Nephropathy, Renal insufficiency, Mitral valve prolapse ORPHA:1563
Chime Syndrome
Acute leukemia ORPHA:3474
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Hematochezia, Hypopl... OMIM:243150
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Bilateral renal hypoplasia... OMIM:243605
Menkes Disease
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Pectus excavatum, Aplasia/Hypopl... ORPHA:565
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
C Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Renal cortical c... OMIM:211750
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema, Microphthalmia, Optic atrophy, Microcephaly OMIM:152950
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Microcephaly, Aplasia/Hypoplasia of the gal... ORPHA:96097
Livedoid Vasculopathy
Abnormal capillary morphology, Telangiectasia of the skin, Abnormality of the peripheral nervous ... ORPHA:542643
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Microcephaly, Flexion c... OMIM:605039
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
H Syndrome
Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system physiology, Bronchiectasis, ... ORPHA:168569
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect, Microcephaly OMIM:617452
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Tibial bowing, Femoral bowing, Blotching pigmentation of the ski... OMIM:601559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Microglossia, Narrow internal auditory canal, Sy... ORPHA:990
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Charge Syndrome
Aortic arch aneurysm, Anophthalmia, Facial palsy, Polyhydramnios, Microcephaly, Aqueductal stenos... ORPHA:138
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Large placenta, Patent ductus arteriosus, Abnormal lung m... ORPHA:1708
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Microvesic... OMIM:300855
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosu... OMIM:618454
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Alagille Syndrome 1
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... OMIM:118450
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Pectus excavatum, ... ORPHA:558
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Hartsfield Syndrome
Encephalocele, Microphthalmia, Respiratory insufficiency, Lobar holoprosencephaly ORPHA:2117
Warburg Micro Syndrome 3
Decreased muscle mass, Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, ... OMIM:614222
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Tracheomal... ORPHA:2745
Atelis Syndrome 2
Microcephaly, Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrh... OMIM:620185
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Anophthalmia, Hypospadias, Tricuspid regurgitati... ORPHA:2556
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hyp... OMIM:274000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Microcephaly ORPHA:1352
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Warsaw Breakage Syndrome
Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:613398
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Microcephaly, Patent ductus arteriosu... ORPHA:163979
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... ORPHA:2473
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Poland Syndrome
Diabetes mellitus, Retinal hamartoma, Cryptorchidism, Acute leukemia, Abnormality of the liver, N... ORPHA:2911
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Costello Syndrome
Barrel-shaped chest, Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Polyhydram... OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Microcephaly, Camptodactyly, Atrial septal defect, Spi... OMIM:617360
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... ORPHA:3472
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Raine Syndrome
Natal tooth, Mixed hearing impairment, Bowing of the long bones, Abnormal pinna morphology, Poste... OMIM:259775
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Glossoptosis, Clinodactyly of the 5th finger, Protruding ear ORPHA:2031
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation, Congestive heart failure ORPHA:137608
Microphthalmia, Syndromic 2
Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Microcephaly, Patent ductus a... OMIM:300166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Preaxial polydact... OMIM:616300
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Absence of stomach bubble on fet... ORPHA:1199
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Pectus exca... ORPHA:2962
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Congenital diaphragmatic hernia, ... ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, H... OMIM:300998
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Hydrops fetalis OMIM:263520
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Pectus excavatum, Patent ductus a... OMIM:610443
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Aicardi-Goutières Syndrome
Enchondroma, Elevated hepatic transaminase, Diabetes mellitus, Neonatal alloimmune thrombocytopen... ORPHA:51
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia... OMIM:206900
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly, Absent gallbladder, Abnormal heart morphology OMIM:184705
Donnai-Barrow Syndrome
Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tu... OMIM:222448
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Posteriorly rotated ears, Tapered finger, Coxa valga, Diastema, Sen... OMIM:301040
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Ventricular septal defect, Microcephaly ORPHA:505237
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Narrow palate, Long philtrum... OMIM:616078
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Cleft upper lip, N... OMIM:616145
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Talipes equinovarus, ... OMIM:277380
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Ventricular septal defect, Hypospadias, Microcephaly, Pa... OMIM:300712
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney,... OMIM:613309
Robinow Syndrome
Dental crowding, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomelic arm shorten... ORPHA:97360
Rubinstein-Taybi Syndrome 1
Accessory spleen, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Respiratory trac... OMIM:180849
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Elevated he... OMIM:619991
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... OMIM:617925
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ... ORPHA:464306
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Ventricular septal defect, Diastasis recti, Microcep... ORPHA:488632
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... ORPHA:251071
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, P... ORPHA:79318
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... OMIM:619525
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Optic disc hypoplasia, Ventricular septal defect, Flexion contracture, Secondar... OMIM:619306
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Pectus excavatum, Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, Umbilical herni... OMIM:104350
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect OMIM:619135
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Pectus excavatum, Patent ductus arterio... OMIM:142900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Secondary microcephaly, Pulmonary artery atr... OMIM:620113
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Optic disc coloboma, Recur... OMIM:300472
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Microcephaly, Patent ductus arteriosus, Optic atrophy, Re... OMIM:616975
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Pectus excavatum, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect ORPHA:52055
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Increased serum serotonin, Atypical pulmonary carcin... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Increased serum serotonin, Atypical pulmonary carcin... ORPHA:100082
Joubert Syndrome 22
Microphthalmia OMIM:615665
8P11.2 Deletion Syndrome
Hypoplasia of penis, Microcephaly, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse,... ORPHA:251066
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Microcephaly ORPHA:447980
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventricle morphology, Spi... ORPHA:500095
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Oligohydramnios ORPHA:158687
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pig... ORPHA:79396
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vas... OMIM:618343
Cowden Syndrome 5
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615108
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedullary differentiati... OMIM:120330
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Hypospadias, Microcephaly, Horseshoe kidney, Vesicoureteral reflux, Dy... OMIM:619103
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, Pectu... OMIM:617506
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Polyhydramnios, Apnea, Pec... OMIM:300373
Filippi Syndrome
Optic atrophy, Ventricular septal defect, Microcephaly ORPHA:3255
Curry-Jones Syndrome
Microphthalmia, Hypopigmented skin patches ORPHA:1553
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary b... OMIM:609049
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, U... ORPHA:261337
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Iron deficiency an... ORPHA:100075
Frontorhiny
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Bi... ORPHA:391474
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Charge Syndrome
Anophthalmia, Polyhydramnios, Secundum atrial septal defect, Holoprosencephaly, Pulmonary artery ... OMIM:214800
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Ventricular septal defect, Microcephaly, Pectus excavatum, Atrial septal defect, ... OMIM:270450
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Cleft palate, Low-set ears, Narrow mouth, Bifid uvula ORPHA:1790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Low-set ears, Protruding tongue OMIM:242860
Hydrolethalus
Microphthalmia, Anophthalmia, Polyhydramnios ORPHA:2189
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Aplasia of the thymus, Facial palsy, Polyhydram... OMIM:620186
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Increased circulating... ORPHA:97287
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Microcephaly, Lymphedema, Patent ductus arteriosus, P... OMIM:606232
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria OMIM:616901
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Watson Syndrome
Neurofibroma, Lisch nodules OMIM:193520
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Carotid artery stenosis, Mitral valve prolapse, Aortic root aneurysm... OMIM:618000
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Ring Chromosome 10 Syndrome
Pectus excavatum, Microphthalmia, Aganglionic megacolon ORPHA:1438
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Hyd... OMIM:245600
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Patent ductus arteriosus, Cor... OMIM:620024
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Autosomal Dominant Robinow Syndrome
Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou... ORPHA:3107
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Varicose veins... OMIM:130050
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Hydranenc... ORPHA:1393
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy ORPHA:699
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Abnormality of the ureter, Ventricular septal defect ORPHA:1770
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Horseshoe kidney, Bladder dive... ORPHA:959
Icf Syndrome
Macroglossia, Malabsorption, Low-set ears, Protruding tongue ORPHA:2268
Congenital Tricuspid Stenosis
Carcinoid tumor ORPHA:95459
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Facial hypotonia, Pallor, Dehydration ORPHA:2131
Mowat-Wilson Syndrome
Ventricular septal defect, Hypospadias, Pulmonary artery sling, Microcephaly, Pectus excavatum, A... OMIM:235730
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Microcephaly, As... OMIM:164280
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Optic atrophy... ORPHA:3301
Cowden Syndrome 6
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:615109
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, Perimembranous ve... OMIM:158170
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Microcephaly, Mitral valve prolapse, Ascending... ORPHA:444072
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Camptodactyly of finger, Microcephaly OMIM:610756
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Microcephaly, Optic atrophy, Hypop... OMIM:251300
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Patent ductus arteriosus, P... ORPHA:96167
Mend Syndrome
Abnormal auditory evoked potentials, Hydrocephalus, Abnormal heart morphology, Microphthalmia, Ao... ORPHA:401973
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Hearing impairment ORPHA:276198
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Microcephaly OMIM:614833
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Microcephaly, Optic disc coloboma, Atrial sep... ORPHA:251014
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Flexion contracture, Increased axial length of the ... OMIM:154700
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Childhood Absence Epilepsy
Pallor ORPHA:64280
Coffin-Siris Syndrome
Ventricular septal defect, Hypospadias, Hepatoblastoma, Microcephaly, Patent ductus arteriosus, R... ORPHA:1465
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl... ORPHA:284979
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Microcephaly ORPHA:261190
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Microcephaly, Optic... OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micropenis, Ventricular septal defect, Secondary microcephaly OMIM:620073
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Carious teeth, Cleft l... OMIM:117650
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morpho... ORPHA:363618
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Congenital diaphragmatic herni... ORPHA:96121
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Microcephaly, Holoprosencephaly, Microphthalmia, Tetralogy ... ORPHA:3186
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... ORPHA:821
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Ventricular septal defect, Pectus excavatum, Aortic root... OMIM:615582
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Microcephaly, Patent duc... OMIM:257920
Clapo Syndrome
Lymphedema, Pectus excavatum, Varicose veins, Lymphangioma, Venous malformation ORPHA:168984
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Ventricular septal defect, Elbow contracture, Microcephaly,... OMIM:178110
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Camptodactyly of finger, Microcephaly, Pectus excavatum, Apla... ORPHA:2462
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu... ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Congenital... OMIM:613150
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Marshall-Smith Syndrome
Bowing of the long bones, Protruding tongue, Gingival overgrowth, Conductive hearing impairment, ... ORPHA:561
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Secondary microcephaly, Mitral valve prolapse OMIM:300986
Letterer-Siwe Disease
Pallor OMIM:246400
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Microcephaly ORPHA:217346
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Oligohydramnios ORPHA:228390
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Microcephaly OMIM:618325
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... OMIM:117550
Aicardi Syndrome
Precocious puberty, Optic disc coloboma, Optic atrophy, Recurrent pneumonia, Teratoma, Carcinoma,... OMIM:304050
Temtamy Syndrome
Aortic regurgitation, Microphthalmia OMIM:218340
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Microcephaly... OMIM:268300
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Scapular winging, Proximal muscle weakn... ORPHA:101085
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Increased... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Increased... ORPHA:352665
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Polyhydramnios, Microcephaly, Recurrent pneumonia, Elbow flexion contracture, Horse... ORPHA:508533
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Kinsship Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... OMIM:619297
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Low-set ears, Protruding tongue OMIM:618797
Renal Agenesis
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... ORPHA:411709
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Microcephaly, Vesicourete... OMIM:609460
Leopard Syndrome 1
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Pectus excavatum, ... OMIM:151100
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Premature gr... ORPHA:769
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Dysosteosclerosis
Optic atrophy, Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:1782
Marshall-Smith Syndrome
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... OMIM:602535
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Optic atrophy, Renal tubular a... OMIM:613457
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... ORPHA:191
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Knee fl... OMIM:617402
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Microcephaly, Situs inversus totalis, Phimosis, Pectus ex... OMIM:309500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia, Polyhydramnios OMIM:615503
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... ORPHA:96201
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Microcephaly, Pectus excavatum, Holoprosencep... ORPHA:261236
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Hypospadias OMIM:106260
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Impaired neutrophil chemot... ORPHA:2968
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Secondar... OMIM:610759
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Tachycardia, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Brachydactyly, Overlapping toe, Rocker bottom foot, Hearing impairment, Tapered finger, 4-5 toe s... ORPHA:488642
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Microcephaly, Abnormal lung lobation, Coarctatio... OMIM:614114
Sprengel Deformity
Spina bifida occulta, Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Diets-Jongmans Syndrome
Hypospadias, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Interrup... OMIM:618846
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Irregular h... ORPHA:89842
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Sensorineural hearing impairment, Dental malo... OMIM:616580
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Renal cyst, Holoprosencephaly, Atrial septal defect, Micropenis, Hepatic ... OMIM:270400
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Tongue atrophy, Sensorineural hearing impairment, Tongue fasciculations, Hea... OMIM:211530
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Pectus excavatum, Congestive heart fai... OMIM:231050
Ververi-Brady Syndrome
Single umbilical artery, Transposition of the great arteries OMIM:617982
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septa... OMIM:312870
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus, Macroglossia, ... OMIM:614609
Velocardiofacial Syndrome
Ventricular septal defect, Microcephaly, Interrupted aortic arch, Unilateral primary pulmonary dy... OMIM:192430
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Spondyloepiphyseal Dysplasia Congenita
Short femur, Limited elbow movement, Upper limb undergrowth, Cleft palate, Genu valgum, Glossopto... ORPHA:94068
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363958
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydr... ORPHA:646
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... ORPHA:99956
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Premature birth, Conotruncal defect ORPHA:40366
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Warburg Micro Syndrome 2
Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, Microphthalmia, Micropenis OMIM:614225
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Diamond-Blackfan Anemia 1
Ventricular septal defect, Premature birth, Tricuspid stenosis, Coarctation of aorta, Small thena... OMIM:105650
Myopathy, Myofibrillar, 7
Tongue atrophy, Elbow flexion contracture, Talipes equinovarus OMIM:617114
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Frontofacionasal Dysplasia
Brushfield spots, Microphthalmia ORPHA:1791
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly ORPHA:2211
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Hypospadias, Microcephaly, Pectus excavatum, Horseshoe kidney, Knee flexion contract... OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Respiratory failure, Muscular dystrophy, Microphthalmia, Increased va... OMIM:616538
Joubert Syndrome 2
Central apnea, Encephalocele, Renal insufficiency, Episodic tachypnea, Hydrocephalus, Optic disc ... OMIM:608091
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Microcephaly, Atrial septal defect, Progressive ... OMIM:610536
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectorali... ORPHA:3138
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias OMIM:612528
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Microcephaly... ORPHA:2729
Odontoonychodermal Dysplasia
Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i... OMIM:257980
Wrinkly Skin Syndrome
Scapular winging, Hypoplasia of the musculature, Microcephaly, Pectus excavatum, Muscular ventric... OMIM:278250
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Rectourethral fistula, Umbilical hernia, Co... OMIM:300000
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Congenital pulmon... ORPHA:436252
Cowden Syndrome 1
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... OMIM:158350
Oculodentodigital Dysplasia
Neurogenic bladder, Microcephaly, Joint contracture of the 5th finger, Atrial septal defect, Micr... OMIM:164200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... OMIM:608836
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia, Interrupted inferior vena cava with azygous continuation, Camptodac... OMIM:206920
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Venous malformation, Spinal dysraphism OMIM:612918
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Hypos... ORPHA:955
Monosomy 9Q22.3
Rhabdomyosarcoma, Pectus excavatum, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Microphthalmia ORPHA:77301
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... OMIM:125310
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Renal cyst, Knee flexion contracture, Atrial septal defect, Micropenis, Pate... OMIM:210710
Distal Deletion 12Q
Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of... ORPHA:96149
Radio-Tartaglia Syndrome
Ventricular septal defect, Microcephaly OMIM:619312
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... ORPHA:141099
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia ORPHA:1806
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula... OMIM:617063
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Low-set ears, Hearing impairment ORPHA:93399
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve ... OMIM:611962
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pectus excavatum, Pneumothorax, M... OMIM:601776
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Congenital diaphragm... OMIM:154400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, Cuppe... OMIM:617062
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hydrops fetalis ORPHA:3261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Elbow flexion contracture, Furrowed tongue, Microdontia, Oral l... OMIM:148210
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Hypospadias, Respirator... ORPHA:286
Johanson-Blizzard Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Micropenis, Hep... OMIM:243800
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Microspherophakia,... OMIM:608328
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Pectus excavatum, Hydrocephalus, Mitral valve prolapse, Camptodactyly, Umbilical he... OMIM:182212
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Tracheomalacia, Microcephaly, Congestive heart failure, P... ORPHA:444077
Angelman Syndrome
Protruding tongue, Wide mouth, Widely spaced teeth, Fair hair, Hypopigmentation of the skin, Iris... ORPHA:72
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticacidu... OMIM:258900
Chand Syndrome
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Neu-Laxova Syndrome
Skeletal muscle atrophy, Polyhydramnios, Microcephaly, Spina bifida, Flexion contracture, Muscula... ORPHA:2671
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Abnormal lung morphology, Flexion contracture, Hydronephrosis ORPHA:35173
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia ORPHA:261250
3Mc Syndrome 2
Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscl... OMIM:265050
Hand-Foot-Genital Syndrome
Ventricular septal defect, Hypospadias, Abnormality of the urethra, Vesicoureteral reflux, Ureter... ORPHA:2438
Lateral Meningocele Syndrome
Pectus excavatum, Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Severe periodontitis, Protruding tongue, Long upper lip, Deep philtrum, Prematur... ORPHA:99843
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Hypopigmented skin patc... ORPHA:464
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... ORPHA:71273
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Mitral regurgitation, Pul... OMIM:277600
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Meester-Loeys Syndrome
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... OMIM:300989
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Freckling, Pigmentary retinopathy OMIM:610651
Aregenerative Anemia
Pallor ORPHA:101096
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis, Microcephaly OMIM:617798
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... OMIM:600460
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Cranium bifidum occultum, Microphtha... ORPHA:306542
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Camptodactyly of finger, Microcephaly, Optic disc coloboma, Microphthal... ORPHA:568
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Accessory oral frenulum... ORPHA:434179
Cornelia De Lange Syndrome 1
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ectopic kidney, Microcep... OMIM:122470
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Meningoencephalocele, Hydrocephalu... OMIM:236670
Adenohypophysitis
Pallor ORPHA:95512
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Renal hypoplasia, Ureteral agenesis, Microphthalmia OMIM:617914
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Flexion contracture, Abnormal aortic arch morphology, Hepatoblastoma, Atrial sept... ORPHA:96334
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Sensorineural hearing impairment, Thick vermilion border, Low-set ears, Narrow... OMIM:608779
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Po... OMIM:617140
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Oligohydramnios OMIM:251230
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Spina ... ORPHA:2308
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Bladde... ORPHA:287
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Stickler Syndrome, Type I
Pectus excavatum, Mitral valve prolapse OMIM:108300
Panhypophysitis
Pallor ORPHA:95513
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Atypical Werner Syndrome
Premature arteriosclerosis, Skeletal muscle atrophy, Prominent superficial veins, Hepatic steatos... ORPHA:79474
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Low-set ears, Protruding tongue OMIM:620352
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Umbilical hernia, Holoprosencephaly, Microphthalmia, Micropenis, Paten... OMIM:613884
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Microcepha... OMIM:619268
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Polyhydramnios, Hydronephrosis, Edema OMIM:302960
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth OMIM:230600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Microcephaly, Recurrent bronchopulmonary ... ORPHA:33364
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram... OMIM:618371
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Microcephaly, Secondary microcephaly, Recurrent lower respiratory trac... OMIM:619229
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... ORPHA:276280
Micro Syndrome
Hypoplasia of penis, Microcephaly, Optic atrophy, Microphthalmia, Hydronephrosis ORPHA:2510
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Microphthalmia OMIM:109400
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Neonatal respiratory distress, Ventricular septal defect, Microcephaly, Coarct... OMIM:244450
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Pituitary Apoplexy
Pallor ORPHA:95613
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Small hand, ... ORPHA:2108
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Atrial septa... OMIM:194050
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... OMIM:151050
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Cardiomegaly, Splenomegaly, Congestive heart... OMIM:252500
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly OMIM:268800
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti... ORPHA:96147
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Hematochezia, Renal t... OMIM:619575
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hypospadias, Microcephaly, Myelomeningocele, Bilateral microphthalmo... OMIM:219000
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Spina bifida, Microcephaly, Pectus excavatum, Optic disc colobo... OMIM:234100
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Corneal stromal edema, Microphthalmia, Joint contracture, Flexion co... OMIM:601812
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ... ORPHA:353281
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Tapered finger... OMIM:309580
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Microcephaly... OMIM:133540
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Microphthalmia With Limb Anomalies
Venous insufficiency, Hydrocephalus, Optic atrophy, Horseshoe kidney, Camptodactyly of 2nd-5th fi... ORPHA:1106
Brittle Cornea Syndrome
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Cerebellofaciodental Syndrome
Microcephaly, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Joubert Syndrome 1
Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Low-set ... OMIM:213300
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Oligohydramnios, Microcephaly OMIM:613451
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... ORPHA:3047
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Pallor ORPHA:667
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ... ORPHA:1051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Muscular dystrophy, Microphthalmia OMIM:614643
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Prolactinoma
Pallor ORPHA:2965
Pallister-Hall Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... ORPHA:672
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Orofaciodigital Syndrome Xiv
Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Cleft lip, Postaxial ha... OMIM:615948
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261552
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Freckling, Telangiectasia OMIM:601675
Melnick-Needles Syndrome
Recurrent respiratory infections, Ureteral stenosis, Pectus excavatum, Mitral valve prolapse, Sti... OMIM:309350
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Pelvic kidney, Microcephaly OMIM:617244
Bartsocas-Papas Syndrome 1
Ectopic kidney, Flexion contracture, Microphthalmia, Arthrogryposis multiplex congenita, Micropen... OMIM:263650
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261537
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Neurooculorenal Syndrome
Dextrocardia, Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus, Stage 2 chronic kidn... OMIM:620305
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... OMIM:313850
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger, Microcephaly OMIM:620098
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi... OMIM:123700
Restrictive Dermopathy
Decreased fetal movement, Multiple joint contractures, Premature birth, Premature delivery becaus... ORPHA:1662
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Ventricular septal defect, Microcephaly, Phthisis bulbi, Microphthalmia OMIM:259770
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Pectus excavatum, Patent ductus arteriosus, Atrial sep... ORPHA:1519
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micropenis, Ventricular septal defect, Microcephaly ORPHA:251028
Oculodentodigital Dysplasia
Neurogenic bladder, Ventricular septal defect, Camptodactyly of finger, Optic atrophy, Umbilical ... ORPHA:2710
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, H... OMIM:164210
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Spina bifida occulta, Atrial ... OMIM:301030
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Barrel-shaped chest, Aortic regurgitation, Tricuspid regurgitation, Vent... OMIM:143095
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse OMIM:166200
Occipital Horn Syndrome
Venous insufficiency, Pectus excavatum, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, B... ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Brea... ORPHA:438213
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod... OMIM:619777
Spondyloocular Syndrome
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Proximal muscle weakness in upper limbs, Flexion contracture... ORPHA:466768
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... ORPHA:666
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... OMIM:607872
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Sensorineural hearing impairment, Hammertoe, Tongue fasciculations, Difficulty in... ORPHA:99949
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Microphthalmia, Micropenis, Ethmocephaly, Single ventricle OMIM:236100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Protruding tongue, Hearing impairment OMIM:619580
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:2152
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Linear Nevus Sebaceus Syndrome
Microphthalmia, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2612
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... OMIM:607721
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neuroblastoma, Optic nerve g... OMIM:601321
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Corneal neovascularization, Telangiectasia OMIM:278730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral ... ORPHA:268261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis, Microcephaly OMIM:241410
Neuroocular Syndrome
Hyperextensibility of the finger joints, Downturned corners of mouth, Widely spaced teeth, Torus ... OMIM:619539
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Mitral v... OMIM:259600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Aspiration, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Aspiration, P... ORPHA:353277
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Microcephaly, Dilatation of the ventricul... ORPHA:459070
Peters-Plus Syndrome
Ureteral duplication, Ventricular septal defect, Diastasis recti, Hypospadias, Microcephaly, Poly... OMIM:261540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Aortic regurgitation, Torticollis, Ventricular septal defect, Bicu... OMIM:619475
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... ORPHA:857
Vacterl With Hydrocephalus
Anophthalmia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pulmonary hypopla... ORPHA:3412
Doors Syndrome
Thickened nuchal skin fold, Double outlet right ventricle, Abnormal placental membrane morphology... ORPHA:79500
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Pa... OMIM:192350
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins, Torticollis, Nephritis, Pyelonephritis OMIM:314300
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Horsesho... ORPHA:1724
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Macroglossia, Enuresis, Mitral valve prolapse ORPHA:369950
8Q21.11 Microdeletion Syndrome
Microphthalmia, Iris hypopigmentation ORPHA:284160
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Rieger anomaly, Ventricular septal defect, Hypospadias, ... OMIM:194190
Yunis-Varon Syndrome
Redundant neck skin, Premature birth, Ventricular septal defect, Polyhydramnios, Hydrops fetalis,... OMIM:216340
Larsen Syndrome
Ventricular septal defect, Tracheomalacia, Pectus excavatum, Atrial septal defect, Spina bifida o... OMIM:150250
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Ur... OMIM:273395
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Pectus excavatum, Small thenar eminence, Camptodacty... OMIM:613458
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Renal cyst, Poly... OMIM:102500
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Bilateral renal hypoplasia, Unila... ORPHA:49
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Partial anomalous pulmo... OMIM:301044
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... OMIM:617666
Microphthalmia, Syndromic 6
Finger syndactyly, Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Single transverse pal... OMIM:607932
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy OMIM:614230
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Pigmentary retinopathy, Reduced... ORPHA:581
Stickler Syndrome
Arachnodactyly, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Sensorineural hear... ORPHA:828
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Furrowed tongue, Hearing impairment OMIM:158310
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Roberts Syndrome
Progressive flexion contractures, Polyhydramnios, Microcephaly, Long penis, Knee flexion contract... ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexi... ORPHA:468631
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Agel Amyloidosis
Tongue atrophy, Xerostomia, Hearing impairment ORPHA:85448
Fraser Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowd... ORPHA:2052
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Microcephaly, Increased axial length of the globe, Right aortic arch, ... ORPHA:513456
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Atelectasis, Proximal renal t... ORPHA:534
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Recurrent pneumonia, Acute myelomonocytic leukemia, Cavernous h... ORPHA:99646
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Microcephal... OMIM:305600
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypopl... OMIM:245150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Ventricular septal defect, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus OMIM:616682
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdom... ORPHA:285
Ohdo Syndrome, X-Linked
Microphthalmia, Cafe-au-lait spot OMIM:300895
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Congenital... OMIM:135900
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1
Pectus excavatum, Microphthalmia, Microcephaly OMIM:156610
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:85167
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression OMIM:619727
Stüve-Wiedemann Syndrome
Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta... ORPHA:3206
Microphthalmia, Syndromic 1
Hydroureter, Bicuspid aortic valve, Hypospadias, Anophthalmia, Microcephaly, Pectus excavatum, Ag... OMIM:309800
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Congen... ORPHA:199
Abetalipoproteinemia
Hepatomegaly, Abnormality of retinal pigmentation, Congestive heart failure, Cardiomegaly ORPHA:14
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal, Single transverse palm... OMIM:619841
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Microcephaly, Ureterocele, Umbilical hernia, Micropenis ORPHA:1934
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, Holoprosencephaly, Microphth... OMIM:157170
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Aicardi Syndrome
Microcephaly, Optic disc coloboma, Optic atrophy, Hepatoblastoma, Microphthalmia ORPHA:50
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Microphthalmia, Ureteropelvic junctio... ORPHA:261112
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Dental crowding, Hype... ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Microcephaly, Hydrocephalus, Micropenis, ... OMIM:147920
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Microce... OMIM:606170
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Holoprosencephaly 7
Occipital meningocele, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Bilateral microphth... OMIM:610828
Varicose Veins
Varicose veins OMIM:192200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Asthma, Recurrent pneumonia, Umb... OMIM:620330
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Microphthalmia, Telangiectasia OMIM:268400
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Witteveen-Kolk Syndrome
Branchial fistula, Hypospadias, Congenital diaphragmatic hernia, Phimosis, Microcephaly, Polyhydr... OMIM:613406
Fanconi Anemia, Complementation Group L
Microphthalmia, Cafe-au-lait spot OMIM:614083
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger, Microcephaly ORPHA:1236
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Holoprosencephaly, Microphthal... OMIM:610829
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Microcephaly, P... OMIM:619522
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... OMIM:107480
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Premature graying of hair, Ar... OMIM:256040
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Beckwith-Wiedemann Syndrome
Hepatomegaly, Polyhydramnios, Cardiomegaly, Splenomegaly, Melanocytic nevus, Hypertrophic cardiom... ORPHA:116
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Acrofrontofacionasal Dysostosis 1
Pectus excavatum, Microphthalmia, Optic atrophy OMIM:201180
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Palmoplantar keratode... ORPHA:79408
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Hypospadias, Congenital diaphragmatic her... OMIM:601803
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Microcephaly, Pectus excavatum, Ureterocele, Microphthalmia OMIM:616734
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration... OMIM:309000
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Facial palsy, Microcephaly, Elbow flexion contracture, Renal cyst, Bra... OMIM:113620
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Cutis laxa, Knee flexion contract... OMIM:614976
Norrie Disease
Aplasia/Hypoplasia of the lens, Microcephaly, Venous insufficiency, Optic atrophy, Hypoplasia of ... ORPHA:649
Ulnar-Mammary Syndrome
Elbow flexion contracture, Micropenis, Ventricular septal defect, Arrhythmia OMIM:181450
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Pectus excavatum, Microphthalmia, Homocystinuria OMIM:601552
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Bilateral Perisylvian Polymicrogyria
Protruding tongue, Hearing impairment ORPHA:98889
Microsporidiosis
Glossitis ORPHA:2552
Plague
Chapped lip, Abnormality of the elbow, Enterocolitis, Inflammation of the large intestine, Glossi... ORPHA:707
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Goodpasture Syndrome
Pallor OMIM:233450
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Microcephaly ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Choreoacanthocytosis
Protruding tongue ORPHA:2388

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Skin - inflammation Nf1tm1a(KOMP)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nf1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nf1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nf1tm1a(KOMP)Wtsi PMC6459510
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. Disease models & mechanisms (June 2016) Nf1tm1a(KOMP)Wtsi PMC4958313
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS genetics (October 2014) Nf1tm1a(KOMP)Wtsi PMC4207618

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
Nf1tm38164(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nf1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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