Gene Summary

Name:
transformation related protein 53 binding protein 2
Synonyms:
53BP2,  ASPP2

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
embryonic lethality prior to tooth bud stage Trp53bp2tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
hyperactivity Trp53bp2tm1b(EUCOMM)Hmgu HET Early adult 9.48×10-06
increased hemoglobin content Trp53bp2tm1b(EUCOMM)Hmgu HET Early adult 6.88×10-05
preweaning lethality, complete penetrance Trp53bp2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating aspartate transaminase level Trp53bp2tm1b(EUCOMM)Hmgu HET Early adult 3.25×10-08
embryonic lethality prior to organogenesis Trp53bp2tm1b(EUCOMM)Hmgu HOM   E9.5 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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart 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)
Kidney N/A heterozygote 100% (2 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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Small intestine 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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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 0.0% (0 of 1)
Ear N/A heterozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Lung N/A heterozygote Not available
Mandibular process N/A heterozygote Not available
Maxillary process N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

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.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Trp53bp2 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 Trp53bp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Schizophrenia 15
Hyperactivity OMIM:613950
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Anophthalmia, Crypto... OMIM:615524
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dolichocephaly, Frontal bos... ORPHA:1538
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Orofacial cleft, Microphthalmia, ... OMIM:611638
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Syngnathia
Cleft palate OMIM:119550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Retinal dysplasia, Neural tube defect, Gonadal dysgenesis OMIM:615041
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Abnormal heart morphology, Macular h... ORPHA:2185
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto... OMIM:604213
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Acalvaria
Calvarial skull defect, Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprose... ORPHA:945
Trisomy 13
Abnormality of the ureter, Anophthalmia, Cryptorchidism, Ventricular septal defect, Displacement ... ORPHA:3378
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Hyperechogenic kidneys, Encephalocele, Anophthalmia, Am... OMIM:613885
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicorn... OMIM:600776
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Microgn... ORPHA:1926
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma, Anal canal squamous carc... ORPHA:217390
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618709
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Flexion contracture, Seborrh... OMIM:278760
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615938
Lissencephaly 1
Ventriculomegaly, Dilation of Virchow-Robin spaces, Pachygyria, Agyria, Gray matter heterotopia, ... OMIM:607432
Joubert Syndrome 14
Optic atrophy, Open mouth, Encephalocele, Malar flattening, Ventricular septal defect, Short phil... OMIM:614424
Dural Sinus Malformation
Ataxia, Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid he... ORPHA:97339
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft lip, Abnormal heart morphology, Nephrolithiasis, C... ORPHA:91412
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Phakomatosis Pigmentokeratotica
Cutaneous melanoma, Pheochromocytoma, Cryptorchidism, Nephroblastoma, Hemangioma, Renal transitio... ORPHA:2874
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, 11 pairs of ribs, Anophthalmia, Cryptorchidism, Ventricular septal defect, Tracheoes... ORPHA:77298
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615937
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Amish Lethal Microcephaly
Optic atrophy, Ventriculomegaly, Organic aciduria, Micrognathia, Cleft soft palate, Death in infa... ORPHA:99742
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum OMIM:614019
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Coloboma, Hydrocephalus, Microphthalmia, Retinal dysplasia ORPHA:324416
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Hypopituitarism, Increased CSF lactate, ... ORPHA:90065
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Spinal cord tumor, Weakness of long finger extensor muscles ORPHA:35125
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Hydrolethalus
Bifid uvula, Gingival cleft, Retrognathia, Micromelia, Unilateral cleft lip, Micrognathia, Anopht... ORPHA:2189
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly ORPHA:1931
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Lissencephaly 3
Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosu... OMIM:611603
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Koolen-De Vries Syndrome Due To A Point Mutation
Open mouth, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Bicuspid aort... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Open mouth, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Bicuspid aort... ORPHA:363958
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Iris coloboma, Non-midline cle... ORPHA:1104
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Renal hypoplasia/aplasia, Ventricular septal defect, Ectopic a... ORPHA:2345
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Cleft upper lip, Agenesis of corpus callosum OMIM:614402
Neurocutaneous Melanocytosis
Ventriculomegaly, Chorioretinal coloboma, Abnormality of retinal pigmentation, Abnormality of neu... ORPHA:2481
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Short philtr... OMIM:613603
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Bilateral microphthalmos, Retinal coloboma, Micrognathia, Mesomeli... ORPHA:2839
Mosaic Trisomy 9
Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septa... ORPHA:99776
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Pseudo-Torch Syndrome 2
Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation, Polymicrogyria, Pe... OMIM:617397
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Microretrognathia, Narrow mouth, Anophthalmia, Crypt... ORPHA:261344
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Fried Syndrome
Abnormal optic nerve morphology, Gait disturbance, Hydrocephalus, High palate, Short philtrum ORPHA:85335
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage, Tethered cord ORPHA:401986
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Joubert Syndrome 15
Nephronophthisis, Retinopathy, Exencephaly, Ambiguous genitalia, Coloboma, Micropenis, Retinal dy... OMIM:614464
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hydrocephalus, Intracranial hemorrhage, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Tetralogy of F... OMIM:136760
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Coloboma, Hydrocephalus, Microphthalmia, Hypospadias ORPHA:141333
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Craniosynostosi... ORPHA:1528
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matt... ORPHA:352682
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hydrocephalus, Simplified gyral pattern OMIM:619470
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Micromelia, Tetralogy of Fallot, Micrognathia, Situs in... ORPHA:1908
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Microphthalmi... ORPHA:3434
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Liposarcoma
Sarcoma ORPHA:69078
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Abruzzo-Erickson Syndrome
Hypospadias, Short toe, Chorioretinal coloboma, Malar flattening, Cryptorchidism, Abnormal palate... ORPHA:921
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Actinic keratosis, Breast carcinoma OMIM:614564
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Myelomeningocele, Thin calvarium, Ureteral agenesis, Micrognat... ORPHA:2437
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Bresek Syndrome
Renal hypoplasia, Plagiocephaly, Hypoplasia of the bladder, Decreased testicular size, Vesicouret... ORPHA:85284
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Retinal detachment, Everte... OMIM:620371
Meige Disease
Angiosarcoma ORPHA:90186
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Stillbirth, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac se... ORPHA:294975
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Branchial cyst, Retrognathia, Renal agenesis, Long philtrum, ... OMIM:615583
Brain Small Vessel Disease 2
Polymicrogyria, Ventriculomegaly, Intracranial hemorrhage, Subcortical heterotopia OMIM:614483
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hallermann-Streiff Syndrome
Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Telangiectasia, ... OMIM:234100
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Werner Syndrome
Gastrointestinal carcinoma, Skeletal muscle atrophy, Cutaneous melanoma, Neoplasm of the oral cav... ORPHA:902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Hydrocephalus OMIM:614830
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Walker-Warburg Syndrome
Optic atrophy, Bifid uvula, Abnormal optic nerve morphology, Anophthalmia, Cryptorchidism, Submuc... ORPHA:899
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Amelia, Ventricular se... OMIM:601357
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Anemia, Partial agenesis of the cor... OMIM:619302
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus ORPHA:1008
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Celiac disease, Scaphocephaly, Hydrocephalus, Calcium oxalate nephrolithiasis, Dol... OMIM:248000
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Small hand, Microretrognathia, Hydrocephalus OMIM:300884
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Elevated urinary dihydrothymine level, Coloboma, Microphthalmia, Uraciluria OMIM:274270
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Left ventric... OMIM:613153
Masa Syndrome
Ventriculomegaly, Shuffling gait, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ov... OMIM:618652
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hyp... OMIM:615219
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Long philtrum, Moyamoya phenomenon, Decreased response to growth hormone ... ORPHA:280679
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Cerebrooculonasal Syndrome
Iris coloboma, Narrow palate, Downturned corners of mouth, Proboscis, Hypoplastic male external g... OMIM:605627
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia ORPHA:488635
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Holoprosencephaly
Chorioretinal coloboma, Encephalocele, Anophthalmia, Ventricular septal defect, Cryptorchidism, A... ORPHA:2162
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Ventriculomegaly, Plagiocephaly, Type II lissencephaly, Brachycephaly, Hydrocephal... ORPHA:272
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Coloboma, Microphthalmia, Cleft palate OMIM:600251
Trisomy 18
Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, An... ORPHA:3380
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance, Retinopathy ORPHA:26
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus, Cryptorchidism ORPHA:250994
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Narrow mouth, Mitral regurgitation, Ventricular septal defect, Hydrocephalus, Abn... ORPHA:83473
Microphthalmia, Syndromic 9
Micrognathia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Neonatal death, Atrial sep... OMIM:601186
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia ORPHA:73256
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma ORPHA:2732
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Chronic neutropenia, Simplified gyr... OMIM:619301
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi... ORPHA:1756
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Schisis Association
Micromelia, Renal agenesis, Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina... ORPHA:63862
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Narrow mouth, Brachycephaly, Microphthalmia, High palate ORPHA:2528
Proboscis Lateralis
Chorioretinal coloboma, Anophthalmia, Ventricular septal defect, Microphthalmia, High palate, Cyc... ORPHA:141099
Diprosopus
Abnormality of retinal pigmentation, Abnormal cardiac septum morphology, Non-midline cleft of the... ORPHA:1681
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Abnormal optic nerve morphology, L... ORPHA:1101
Cerebral Cavernous Malformations
Retinal vascular malformation, Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Prominent m... OMIM:147250
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Long philtrum, Spina bifida, Mitral valve prolapse OMIM:211960
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterot... OMIM:615191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Ventricular septal defect, Abnormal optic disc morphology, Bicuspid aortic valve, M... ORPHA:508498
Trisomy 20P
Abnormality of the ureter, Micrognathia, Cryptorchidism, Everted lower lip vermilion, Abnormality... ORPHA:261318
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... ORPHA:1777
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Long philtrum, Smooth philtrum, Intraventricular hemorrhage, Reduced circulatin... OMIM:616430
Meckel Syndrome
Multicystic kidney dysplasia, Micrognathia, Encephalocele, Anophthalmia, Cryptorchidism, Male pse... ORPHA:564
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Tricuspid regurgitation, Atrioventricular canal defe... ORPHA:1120
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub... OMIM:618291
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Abnormal optic disc morphology, Pi... OMIM:617516
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Anterior ... ORPHA:2863
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpo... OMIM:616034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Inability to walk, Hydrocephalus, Macroglossia, Abnormal left ventricular functio... OMIM:613155
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Dental malocclusion, Short toe, Downturned corners of mouth, Open... ORPHA:1327
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Everted lower lip vermilion, At... OMIM:616898
Congenital Macroglossia
Macroglossia, Neurofibroma ORPHA:2430
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Coloboma, Microphthalmia, Micropenis, ... OMIM:610125
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Gait di... ORPHA:136
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Abnormality of neuronal migration, Cerebral hemorrhage, Gray matte... OMIM:300049
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Ventricular septal defect, Neonatal death, Microphthalmia, Opti... OMIM:613730
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Cardiomyopat... ORPHA:370959
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Wide mouth, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Ovarian Fibrothecoma
Abnormality of the ovary, Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... ORPHA:991
Microlissencephaly
Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopi... ORPHA:1083
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Lissencephaly, X-Linked, 1
Pachygyria, Agenesis of corpus callosum, Ataxia, Gray matter heterotopia, Agyria, Lissencephaly OMIM:300067
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Ventricular sep... ORPHA:2515
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Microphthalmia With Limb Anomalies
Finger aplasia, Retrognathia, Cleft upper lip, Foot oligodactyly, Anophthalmia, Fibular hypoplasi... OMIM:206920
Joubert Syndrome With Ocular Defect
Retinal coloboma, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Aganglionic megacol... ORPHA:220493
Bowen-Conradi Syndrome
Ventriculomegaly, Micrognathia, Cryptorchidism, Death in infancy, Orofacial cleft ORPHA:1270
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation, Cryptorchidism, Ventricular septal defect OMIM:616816
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy, Cleft palate ORPHA:90654
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Inability to walk, Hydrocephalus, Ataxia, Pachygyria OMIM:618174
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal optic nerve morphology, Retrognathia, Renal agenesis, Micrognathi... ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Ventriculomegaly, Retrognathia, Polymicrogyria, Type II lissencephaly, P... OMIM:614643
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Periventricular heterotopia, Tented upper lip vermilion, Exagger... OMIM:619833
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextrocardia, Mic... OMIM:264480
Diencephalic Syndrome
Optic atrophy, Long penis, Hydrocephalus, Everted lower lip vermilion ORPHA:1672
Non-Distal Duplication 10Q
Abnormality of the urinary system, Micrognathia, Cryptorchidism, Brachycephaly, Everted lower lip... ORPHA:1695
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestina... ORPHA:1052
Neu-Laxova Syndrome
Micrognathia, Everted lower lip vermilion, Polymicrogyria, External genital hypoplasia, Submucous... ORPHA:2671
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
2Q24 Microdeletion Syndrome
Abnormal oral frenulum morphology, Coloboma, Microphthalmia, Short philtrum, Cleft palate ORPHA:1617
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Plagiocephaly, Ventriculomegaly, Long philtrum, Micrognath... OMIM:618577
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia, Glossi... ORPHA:79284
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Oligodontia, Ventricular septal defect, Thin upper lip vermilion, A... OMIM:618330
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... OMIM:207950
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Microphthalmia, Isolated 4
Absent testis, Coloboma, Microphthalmia OMIM:613094
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Double o... OMIM:231060
Stevenson-Carey Syndrome
Downturned corners of mouth, Recurrent urinary tract infections, Narrow mouth, Brachycephaly, Col... OMIM:611961
Microphthalmia, Syndromic 3
Hypospadias, Optic nerve aplasia, Vertebral hypoplasia, Anophthalmia, Cryptorchidism, Ventricular... OMIM:206900
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Micrognathia, Open mouth, Dolichocephaly, Abnormal oral cavity morphology, Hydr... ORPHA:1516
Cofs Syndrome
Optic atrophy, Hypogonadism, Micrognathia, Abnormality of retinal pigmentation, Death in infancy,... ORPHA:1466
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Jaw swelling, Gingival overgrowth, Ventriculomegaly OMIM:619323
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Skeletal muscle atrophy, Lymphoma, Neoplasm, B-cell lymphoma, T-cell lymp... ORPHA:647
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Long philtrum, Polymicrogyria, Ileus, Agenesis of corpus c... OMIM:620156
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic ... OMIM:619955
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Sneddon Syndrome
Lymphopenia, Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, H... OMIM:182410
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Micro... ORPHA:84
Aplasia Cutis Congenita
Calvarial skull defect, Facial palsy, Prolonged bleeding time, Spinal dysraphism ORPHA:1114
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Edinburgh Malformation Syndrome
Hydrocephalus, U-Shaped upper lip vermilion OMIM:129850
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Open mouth, Cryptorchidism, Narrow mouth, Ventricular septal defe... OMIM:300967
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal peripheral nervous system morphology, Hematochezia, Gastrointestinal hemorrhage, Diffuse... ORPHA:464321
Dandy-Walker Syndrome
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Vascular dilatation, Hydr... OMIM:220220
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Broad-based gait, Delayed eruption of teeth, Thick lower lip vermilion, Abno... ORPHA:369950
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Dilation of Virchow-Robin spaces, Retinal pigment epithelial mottling, Lateral ventricle dilatati... OMIM:619517
Iniencephaly
Rhizomelia, Spinal dysraphism, Absent vertebra, Renal agenesis, Myelomeningocele, Abnormal occipi... ORPHA:63259
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventriculomegaly, Brachyturricephaly, Horseshoe kidney, Malar flattening, Cryptorchi... OMIM:218350
Abeta Amyloidosis, Iowa Type
Stroke, Gait disturbance, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Long philtrum, Umbilical hernia, Micrognathia, Thin vermilion b... ORPHA:171839
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Short toe, Short finger, Widely spaced teeth, Thin... OMIM:602342
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Small hand, Microphallus, Long philtrum, Myelomeningocele, Abnormal... ORPHA:94065
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Bicornuate uterus, Cleft palate OMIM:258320
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Trigonocephaly, Thin upper lip vermilion, Orofacial cleft, Coloboma,... OMIM:614583
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Hematuria, Retinal detachment, Mic... ORPHA:1473
Rabson-Mendenhall Syndrome
Precocious puberty, Abnormality of the dentition, Dental crowding, Cardiomyopathy, Fasting hyperi... ORPHA:769
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Ventriculomegaly, Abnormality of neuronal migration, Thrombocytopenia ORPHA:1980
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Aganglionic megacolon, Hydrocephalus, High palate, Partial agenesis of the corp... OMIM:304100
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Macular degeneration, Medial calcification of l... OMIM:177850
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus, Ataxia ORPHA:1532
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Chorioretinal coloboma, Open bite, Ventricular septal defect, Renal... ORPHA:2092
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cat Eye Syndrome
Chorioretinal coloboma, Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atr... OMIM:115470
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Wide mouth, Open mouth, Cryptorchidism, Patent foramen ovale, Brachycephaly, Colob... OMIM:616789
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Median cleft palate, Microphthalmia ORPHA:2432
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Thin upper lip vermilion, Smooth philtrum, Spina bifida, Shawl scrotum, Micropenis OMIM:620439
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Steppage gait, Abnormal spinal cord morphology, Hydroce... ORPHA:99947
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Methanol Poisoning
Type I diabetes mellitus, Abnormal optic nerve morphology, Inflammatory arteriopathy, Permanent a... ORPHA:31825
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Joubert Syndrome 3
Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Open mout... OMIM:608629
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Int... ORPHA:447788
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Duodenal stenosis, Micrognathia, Abnormality of the upper urinary tract, Microphthal... ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Optic atrophy, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyr... OMIM:253800
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Neoplasm of the posterior pitu... ORPHA:2495
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Cranial nerve compre... ORPHA:94080
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Aortic aneurysm, Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus ORPHA:261102
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N... ORPHA:83469
Cerebrocostomandibular Syndrome
Hydranencephaly, Multicystic kidney dysplasia, Myelomeningocele, Micrognathia, Death in infancy, ... ORPHA:1393
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition, Retinal degeneration OMIM:251700
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Renal cyst, Hydrocephalus, Atrial septal defect, Microp... OMIM:611134
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Abnormal mitral valve morphology, Ventricular sept... ORPHA:7
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect, Cryptorchidism, Umbilical hernia ORPHA:1918
Basal Cell Nevus Syndrome 1
Iris coloboma, Mandibular prognathia, Short distal phalanx of the thumb, Cleft upper lip, Cardiac... OMIM:109400
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Aicardi Syndrome
Precocious puberty, Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Optic d... OMIM:304050
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Renal cyst, Coloboma, Retinal dystrophy OMIM:614465
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Leuk... OMIM:602501
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Downturned corners of mouth, Micrognathia, Ventricular septal defect, Ambiguous genit... ORPHA:93267
Congenital Toxoplasmosis
Ventriculomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus, Lymphadenopat... ORPHA:858
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Cryptorchidism, Mitral regurgitation,... OMIM:615873
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Turriceph... ORPHA:93262
Hemimegalencephaly
Optic atrophy, Ventriculomegaly, Polymicrogyria, Gray matter heterotopia, Cranial asymmetry, Pach... ORPHA:99802
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Pseudopapille... ORPHA:140989
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept... ORPHA:567
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Cryptorchidism, Open mouth, Protruding tongue, Alveola... OMIM:200990
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Dilated third ventricle, Ventriculomegaly, Lateral ventric... OMIM:613154
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern OMIM:617800
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Cryptorchidism OMIM:613951
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Limb-girdle muscle weaknes... OMIM:1