Gene Summary

Name:
SMAD specific E3 ubiquitin protein ligase 2
Synonyms:
2810411E22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, incomplete penetrance Smurf2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver 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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 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 0.0% (0 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 N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 100% (2 of 2)

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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Smurf2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Smurf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... ORPHA:100079
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... ORPHA:69077
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Masa Syndrome
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis OMIM:303350
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... ORPHA:662
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Lymphad... ORPHA:100025
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Myelodysplasia ORPHA:721
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Ly... OMIM:619164
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... ORPHA:424016
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites ORPHA:314478
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Fried Syndrome
Hydrocephalus, Scoliosis ORPHA:85335
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... ORPHA:75564
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy ORPHA:545
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Scoliosis OMIM:300884
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Kleeblattschaedel
Hydrocephalus OMIM:148800
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ... ORPHA:2635
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm OMIM:240500
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate, Fibroma OMIM:619750
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, H... OMIM:613330
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... OMIM:620282
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:276950
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Kyphoscoliosis OMIM:300886
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity ORPHA:391
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia ORPHA:37748
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... ORPHA:397596
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Scoliosis ORPHA:2181
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Hydrocephalus, Short neck ORPHA:1516
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... OMIM:613686
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short neck ORPHA:2183
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyos... ORPHA:139411
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer... OMIM:609981
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... OMIM:308240
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
6P22 Microdeletion Syndrome
Hydrocephalus, Short neck ORPHA:251046
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne... OMIM:214900
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis OMIM:613490
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:618577
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Punctate vertebral calcifications, Hydrocephalus, Short neck ORPHA:1914
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... OMIM:616005
Gorlin Syndrome
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis ORPHA:377
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... ORPHA:124
Alexander Disease Type I
Hydrocephalus, Scoliosis ORPHA:363717
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:3162
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2180
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Abnormal form of the vertebral bodies, Abnormal sacrum morphology ORPHA:93262
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure ORPHA:75234
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... OMIM:613101
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platyspondyly, Ventriculomegaly ORPHA:2655
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Scoliosis ORPHA:99947
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... OMIM:602347
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Vertebral compression fracture, Scoliosis OMIM:112240
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... ORPHA:1572
Temple Syndrome
Hydrocephalus, Scoliosis ORPHA:254516
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Abnormal vertebral morphology, Hemivertebrae, Holoprosencephaly ORPHA:77298
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Pudendal Neuralgia
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm ORPHA:60039
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Abnormal intervertebral disk morphology ORPHA:2701
Houge-Janssens Syndrome 1
Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:616355
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis ORPHA:664
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Abnormality of the vertebral column, Ventriculomegaly OMIM:109120
Bresek Syndrome
Hydrocephalus, Hemivertebrae, Scoliosis ORPHA:85284
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Hydrocephalus, Thoracic scoliosis, Ventriculomegaly OMIM:603387
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Hogue-Janssen Syndrome 2
Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:616362
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Cleft palate ORPHA:33001
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe... ORPHA:75233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elev... ORPHA:3261
Diabetic Embryopathy
Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism ORPHA:1926
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph... ORPHA:39041
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... ORPHA:99880
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly OMIM:617866
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Platyspondyly OMIM:300863
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Multiple myeloma, Anemia OMIM:230800
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... ORPHA:729
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... ORPHA:143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Thoracolumbar kyphosis, Cer... ORPHA:15
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... OMIM:235555
Crouzon Syndrome
Hydrocephalus, Abnormal sacrum morphology ORPHA:207
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Ventricul... ORPHA:370959
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hemivertebrae, Dandy-Walker malformation OMIM:220210
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Hydrocephalus, Platyspondyly, Dandy-Walker malformation, Vent... OMIM:618476
Axial Mesodermal Dysplasia Spectrum
Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ... ORPHA:1834
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Temple Syndrome
Hydrocephalus, Scoliosis OMIM:616222
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:314390
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platyspondyly, Ventriculomegaly ORPHA:1860
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Cavernous hemangioma, Righ... OMIM:616028
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Tetrasomy 15Q26
Hydrocephalus, Kyphoscoliosis, Dandy-Walker malformation OMIM:614846
3C Syndrome
Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Scoliosis, Dandy-Walker malformation, Ventric... ORPHA:7
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:619833
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Thanatophoric Dysplasia, Type I
Hydrocephalus, Severe platyspondyly, Platyspondyly, Short neck OMIM:187600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... OMIM:618935
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Short neck OMIM:620156
Coach Syndrome 2
Hydrocephalus OMIM:619111
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Platyspondyly ORPHA:163966
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Hyd... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Emanuel Syndrome
Sacral dimple, Kyphosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent protruding coccyx, Abnormal form of ... ORPHA:2839
Cole-Carpenter Syndrome 2
Kyphosis, Hydrocephalus, Platyspondyly OMIM:616294
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Nephronophthisis 18
Hydrocephalus OMIM:615862
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly, Short neck ORPHA:3376
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Joubert Syndrome
Encephalocele, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies ORPHA:475
Fanconi Anemia, Complementation Group R
Hydrocephalus, Scoliosis OMIM:617244
Fanconi Anemia, Complementation Group B
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly, Short neck OMIM:300514
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Scoliosis, Ventriculomegaly ORPHA:2169
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Scoliosis, Biconcave vertebra... OMIM:130720
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
1Q44 Microdeletion Syndrome
Hydrocephalus, Scoliosis, Ventriculomegaly ORPHA:238769
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Hemangioblastoma
Hydrocephalus ORPHA:252054
Achondroplasia
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Spinal stenosis with reduced int... OMIM:100800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Hydrocephalus, Anencephaly, Absent ... ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Scoliosis OMIM:615249
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Abnormal vertebral morphology, Scoliosis ORPHA:220493
Emanuel Syndrome
Sacral dimple, Kyphoscoliosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation, Ventriculomegaly ORPHA:96170
Genitopalatocardiac Syndrome
Kyphosis, Hydrocephalus, Scoliosis ORPHA:2075
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Hydrocephalus, Spinal canal stenosis, Coronal ... OMIM:616007
Aicardi Syndrome
Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... OMIM:304050
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... ORPHA:3412
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ren... OMIM:260920
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Short neck OMIM:612938
Arachnoiditis
Hydrocephalus ORPHA:137817
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Tenorio Syndrome
Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:616260
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Hydrocephalus, Scoliosis, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Anisospondyly, Short neck ORPHA:1865
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Short neck OMIM:612582
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Hydrocephalus, Lumbar hyperlordosis, Platyspondyly OMIM:616482
Trisomy 17P
Hydrocephalus, Scoliosis, Short neck ORPHA:261290
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hydrocephalus, Scoliosis OMIM:619951
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis OMIM:620351
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Scoliosis ORPHA:2318
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma OMIM:612918
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Hemivertebrae, Scoliosis OMIM:104350
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Hydrocephalus OMIM:259700
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Neoplasm of the skin ORPHA:53715
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Scoliosis ORPHA:220497
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Scoliosis OMIM:612940
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Spinal rigidity, Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:613150
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Hydrocephalus, Kyphosis, Biconcave vertebral bodi... OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Congenital Disorder Of Glycosylation, Type Iil