Gene Summary

Name:
cadherin 10
Synonyms:
C030011H18Rik,  C030003B10Rik,  T2-cadherin,  A830016G23Rik

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
increased lymphocyte cell number Cdh10tm2b(KOMP)Wtsi HOM Early adult 7.33×10-12
increased lean body mass Cdh10tm2b(KOMP)Wtsi HOM Early adult 3.28×10-05
microphthalmia Cdh10tm2b(KOMP)Wtsi HOM Early adult 0.00
increased leukocyte cell number Cdh10tm2b(KOMP)Wtsi HOM Early adult 5.97×10-13
increased neutrophil cell number Cdh10tm2b(KOMP)Wtsi HOM Early adult 1.07×10-08
increased monocyte cell number Cdh10tm2b(KOMP)Wtsi HOM Early adult 2.96×10-08

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Ileum  Section images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Spinal cord  Section images heterozygote 25% (1 of 4)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 25% (1 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 25% (1 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 25% (1 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 25% (1 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 25% (1 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Human diseases caused by Cdh10 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 Cdh10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:619644
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Gombo Syndrome
Microphthalmia OMIM:233270
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... OMIM:226990
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo... OMIM:612541
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Small for gestational age OMIM:278780
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Congenital Toxoplasmosis
Microphthalmia, Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Failure to thrive OMIM:274270
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
2Q24 Microdeletion Syndrome
Microphthalmia, Failure to thrive, Small for gestational age ORPHA:1617
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Biemond Syndrome Type 2
Microphthalmia, Obesity ORPHA:141333
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Thrombocytopenia ORPHA:290
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Failure to thrive, Lymphopenia, Neutropenia OMIM:616395
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Cofs Syndrome
Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Pierpont Syndrome
Microphthalmia, Small for gestational age ORPHA:487825
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pierpont Syndrome
Microphthalmia, Failure to thrive, Decreased body weight OMIM:602342
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Warburg Micro Syndrome 1
Microphthalmia, Failure to thrive OMIM:600118
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia ORPHA:54251
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:600901
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Failure to thrive, Microcytic anemia OMIM:612379
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Fanconi Anemia, Complementation Group I
Microphthalmia, Decreased body weight, Optic nerve hypoplasia, Neutropenia OMIM:609053
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:227650
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Obesity OMIM:601794
Gracile Bone Dysplasia
Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to thrive OMIM:602361
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Anemia OMIM:617883
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Failure to thrive in in... OMIM:617099
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Obesity ORPHA:363741
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Matthew-Wood Syndrome
Microphthalmia, Failure to thrive, Anophthalmia, Abnormal spleen morphology ORPHA:2470
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Seckel Syndrome 2
Microphthalmia, Small for gestational age OMIM:606744
Fanconi Anemia, Complementation Group R
Microphthalmia, Anemia OMIM:617244
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:227645
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Decreased body weight OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Wolcott-Rallison Syndrome
Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia ORPHA:1667
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Failure to thrive, Small for gestational age OMIM:214150
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Leukopenia, Microphthalmia, Failure to thrive, Anemia OMIM:603467
Joubert Syndrome 22
Microphthalmia OMIM:615665
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia ORPHA:1438
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Adams-Oliver Syndrome
Microphthalmia, Thrombocytopenia, Failure to thrive, Leukopenia ORPHA:974
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small for gestational age OMIM:610756
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Obesity ORPHA:3191
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss ORPHA:764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia ORPHA:829
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture ORPHA:335
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Joubert Syndrome 37
Microphthalmia, Obesity OMIM:619185
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Sandestig-Stefanova Syndrome
Microphthalmia, Small for gestational age OMIM:618804
Refsum Disease
Splenomegaly, Microphthalmia ORPHA:773
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Baraitser-Winter Syndrome 1
Microphthalmia, Failure to thrive OMIM:243310
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Cohen Syndrome
Microphthalmia, Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Failure to thrive in infancy, Abscess OMIM:612852
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:227646
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Leukocytosis, Eosinophilia OMIM:308300
Monosomy 18P
Microphthalmia ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, Anophthalmia OMIM:206920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Decreased body weight OMIM:617306
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Kapur-Toriello Syndrome
Microphthalmia, Failure to thrive ORPHA:2328
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Small for gestational age, Anemia OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Failure to thrive in infancy, Decreased body weight OMIM:610758
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Obesity ORPHA:251038
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Microphthalmia, Lymphopenia, Anemia OMIM:620005
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Atelis Syndrome 2
Microphthalmia, Thrombocytopenia, Anemia OMIM:620185
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Stromme Syndrome
Accessory spleen, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Kikuchi-Fujimoto Disease
Splenomegaly, Weight loss, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Joubert Syndrome 14
Microphthalmia OMIM:614424
Jacobsen Syndrome
Microphthalmia, Failure to thrive, Macular hypoplasia, Thrombocytopenia OMIM:147791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Small for gestational age OMIM:619148
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Failure to thrive OMIM:257850
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Incontinentia Pigmenti
Microphthalmia, Eosinophilia ORPHA:464
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Acute lymphoblastic leukemia, Aplastic anemia OMIM:223370
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Small for gestational age OMIM:601675
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Failure to thrive OMIM:302960
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Micro Syndrome
Microphthalmia ORPHA:2510
3Q29 Microdeletion Syndrome
Microphthalmia, Failure to thrive ORPHA:65286
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Failure to thrive OMIM:300952
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Joubert Syndrome 2
Microphthalmia, Failure to thrive OMIM:608091
Galloway-Mowat Syndrome 3
Microphthalmia, Failure to thrive OMIM:617729
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia, Failure to thrive ORPHA:2538
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Small for gestational age OMIM:251300
Momo Syndrome
Bilateral microphthalmos, Obesity, Large for gestational age ORPHA:2563
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia OMIM:614083
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia, Failure to thrive in infancy ORPHA:2162
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Ohdo Syndrome, X-Linked
Microphthalmia, Decreased body weight OMIM:300895
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Weight loss, Aplasia/Hypoplasia of the iris, Leukopen... ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Failure to thrive OMIM:601812
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Unilateral microphthalmos OMIM:618874
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
1Q21.1 Microdeletion Syndrome
Microphthalmia, Failure to thrive ORPHA:250989
Frontorhiny
Microphthalmia ORPHA:391474
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Microphthalmia ORPHA:1052
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cockayne Syndrome B
Small for gestational age, Splenomegaly, Hypoplasia of the iris, Severe failure to thrive, Microp... OMIM:133540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Failure to thrive ORPHA:364577
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Meckel Syndrome
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Degcags Syndrome
Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Hepatosplenomegaly, Leuko... OMIM:619488
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Hallermann-Streiff Syndrome
Microphthalmia, Small for gestational age OMIM:234100
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Fryns Syndrome
Microphthalmia ORPHA:2059
Treacher-Collins Syndrome
Microphthalmia, Failure to thrive, Hypoplasia of the thymus ORPHA:861
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Trisomy 18
Microphthalmia, Cachexia ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Meckel Syndrome 14
Microphthalmia OMIM:619879
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Monosomy 9Q22.3
Microphthalmia, Large for gestational age ORPHA:77301
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Buphthalmos, Microphthalmia, Failure to thrive, Anemia ORPHA:534
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Roberts Syndrome
Microphthalmia, Thrombocytopenia ORPHA:3103
Cousin Syndrome
Microphthalmia OMIM:260660
22Q11.2 Deletion Syndrome
Splenomegaly, Obesity, Hypoplasia of the thymus, Microphthalmia, Failure to thrive, Thrombocytopenia ORPHA:567
Histiocytoid Cardiomyopathy
Microphthalmia, Failure to thrive, Congenital aphakia ORPHA:137675
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fryns Syndrome
Microphthalmia, Polysplenia, Large for gestational age OMIM:229850
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Small for gestational age OMIM:268400
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cat Eye Syndrome
Microphthalmia OMIM:115470
Cockayne Syndrome Type 3
Splenomegaly, Microphthalmia ORPHA:90324
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Tetraamelia Syndrome 1
Asplenia, Microphthalmia OMIM:273395
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Meckel Syndrome, Type 1
Asplenia, Microphthalmia, Accessory spleen, Splenomegaly OMIM:249000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia ORPHA:93325
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, True anophthalmia ORPHA:1106
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Cockayne Syndrome
Splenomegaly, Microphthalmia, Cachexia ORPHA:191
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mend Syndrome
Microphthalmia, Failure to thrive ORPHA:401973
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Aplasia of the thymus OMIM:620186
Myhre Syndrome
Microphthalmia, Small for gestational age, Obesity OMIM:139210