Gene Summary

Name:
fibroblast growth factor receptor substrate 2
Synonyms:
SNT1,  Frs2alpha,  C330018A15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Frs2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Frs2tm1b(EUCOMM)Wtsi HET   Early adult 1.35×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote Ambiguous
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 50% (1 of 2)
Bone 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
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)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Frs2 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 Frs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysp... OMIM:615771
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Microcephaly, Clinodactyly... OMIM:233270
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia OMIM:611638
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Short... OMIM:613885
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia, Microcephaly OMIM:616570
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lis... ORPHA:1528
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Microphthalmia, Anophthalmia, Hypoplasia of the corpus callosum, Agene... OMIM:164180
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Microphthalmia, Simplified gyral pattern, Cerebral atrophy, Microcephaly OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of t... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Microphthalmia, Hydrocephalus, Cerebellar hypoplasia OMIM:614830
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Triphalangeal thumb, Microcephaly, Split foot ORPHA:3434
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hyp... OMIM:218670
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Microphthalmia OMIM:615524
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia ORPHA:291
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Dextrocardia OMIM:221950
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypopl... OMIM:615181
Lambert Syndrome
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect ORPHA:1296
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Cerebellar malformation, Hydrocephalus, Macrocephaly at birth, Type II lissencephaly ORPHA:324416
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Proximal placement of thumb, Inferior vermis hypoplasia, Finger syn... ORPHA:139471
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidum, Hydrocephal... ORPHA:2189
Cofs Syndrome
Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cere... ORPHA:1466
Walker-Warburg Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Microphthalmia, Anophthalmia, Absent septu... ORPHA:899
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Progressive macrocephaly, Ventricular septal defect, Microphthalmia, Megalencephaly, Polydactyly,... OMIM:602501
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly, Anterior hypopituitarism, Decreased response to ... OMIM:147250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Microphthalmia, Anophthalmia, Holoprosencephaly, Hydrocephalus, Agenes... ORPHA:77298
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Anencephaly, A... OMIM:611134
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebellar hypoplasia, Cerebral atrophy, Mi... OMIM:251270
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:274270
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Occipital cortical atrophy ORPHA:411986
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Microphthalmia, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicro... OMIM:614833
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microphthalmia, Abnormal morphology of the radius, Atrial septal defec... ORPHA:3469
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Microphthalmia, Overlapping toe, Cerebellar vermis hypoplasia, Cerebe... OMIM:600118
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Congenital Toxoplasmosis
Microphthalmia, Cardiomegaly, Hydrocephalus, Cerebral calcification, Microcephaly ORPHA:858
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Cerebellar hypoplasia, ... OMIM:214150
Adams-Oliver Syndrome 2
Microphthalmia, Macrocephaly, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Microcepha... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Lissencephaly, Abnormally large globe, Progressive microcephaly, Hypoplasia of th... OMIM:615249
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Corpus callosum atrophy, Diffuse cerebral at... ORPHA:77299
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Anophthalmia, Cystic hygroma, Arachnodactyly, Increase... ORPHA:261344
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Microphthalmia, Cardiomegaly, Atrial septal defec... OMIM:618652
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Trisomy 13
Ventricular septal defect, Chiari malformation, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia ... ORPHA:3378
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Microphthalmia, Cerebellar atrophy, Secondary microcephaly, Hypoplasi... OMIM:615663
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Microphthalmia, Agenesis of corpus callosum,... ORPHA:370959
Pierpont Syndrome
Abnormal cortical gyration, Chiari malformation, Microphthalmia, Short finger, Primary microcepha... ORPHA:487825
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... OMIM:617914
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Talipes equinovarus, Microphthalmia, Microcephaly OMIM:612530
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Joubert Syndrome 22
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Agenesis of cerebellar vermis, Pos... OMIM:615665
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Microcephaly OMIM:614082
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Spina bifida ORPHA:1104
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... ORPHA:2117
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Microcephaly, Camptodactyly of finger OMIM:610756
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Finger syndactyly, Short toe, Short fem... ORPHA:93323
Microphthalmia, Syndromic 3
Ventricular septal defect, Microphthalmia, Anophthalmia, Hypothalamic hamartoma, Optic nerve hypo... OMIM:206900
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Microphthalmia, Bowing of the long bones, Rhizomelia, Proximal placeme... ORPHA:93267
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Hand clenching, Long fingers, Bullet-shaped distal phalanx of the... ORPHA:1617
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Baraitser-Winter Syndrome 2
Microphthalmia, Webbed neck, Short neck, Pachygyria, Secondary microcephaly, Lissencephaly, Agene... OMIM:614583
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Seckel Syndrome 2
Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microphthalmia, Microcephaly OMIM:606744
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Hand oligodactyly, Anophthalmia, Hypoplasia of the radius, Polymicrogyria, Poren... OMIM:156810
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Microphthalmia, Anencephaly, Polydactyly, Bowing of the l... OMIM:603194
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cerebellar cyst, Microphthalmia, Cerebellar vermis hypoplasia, Macrocephaly, Polymic... OMIM:616538
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limbs, Macro... OMIM:300863
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Holoprosencephaly
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Abnormal pulmonary valve mo... ORPHA:2162
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Microcephaly ORPHA:1131
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Sub... OMIM:613001
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Nanophthalmos
Microphthalmia ORPHA:35612
Temtamy Syndrome
Genu varum, Microphthalmia, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Short toe, C... ORPHA:1777
Warburg Micro Syndrome 3
Microphthalmia, Microcephaly, Clinodactyly of the 5th finger, Polymicrogyria, Secondary microceph... OMIM:614222
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Postaxial hand polydactyly... ORPHA:85284
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Tapered finger, Long fingers, Broad neck, Short palm, Short neck, Hypoplasia of t... OMIM:616734
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand... OMIM:611561
Craniofacial Microsomia
Ventricular septal defect, Microphthalmia, Anophthalmia, Branchial anomaly, Hydrocephalus, Tetral... OMIM:164210
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Arrhinencephaly, Abnormality of the humerus, Microphthalmia, Truncus ... ORPHA:2538
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Microphthalmia, Colpocephaly, Optic nerve hypoplasia, Absent septum pe... OMIM:609053
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Monosomy 18P
Microphthalmia, Holoprosencephaly, Webbed neck, Brachydactyly, Low posterior hairline, Short neck... ORPHA:1598
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Anophthalmia... OMIM:610829
Pierpont Syndrome
Microphthalmia, Short finger, Short foot, Short palm, Short toe, Short neck, Prominent fingertip ... OMIM:602342
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... OMIM:264480
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Finger syndactyly, Atrial septal defect, Cortical dysplasia ORPHA:261272
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Heart And Brain Malformation Syndrome
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Hand clenching, Global brai... OMIM:616920
Vacterl With Hydrocephalus
Arrhinencephaly, Microphthalmia, Anophthalmia, Hypoplasia of the radius, Spina bifida, Hydrocepha... ORPHA:3412
Microphthalmia, Syndromic 8
Microphthalmia, Microcephaly, Split foot OMIM:601349
Cerebrooculonasal Syndrome
Anophthalmia, Cerebellar vermis hypoplasia, Macrocephaly, Hydrocephalus, Postaxial hand polydacty... OMIM:605627
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Macrocephaly, Microphthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Cerebellar cyst, Microphthalmia, Holoprosencephaly, Lissencephaly, Pulmon... OMIM:253800
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pericallosal lipoma, Tetralogy of Fallot, Postaxial h... OMIM:136760
Meckel Syndrome
Dandy-Walker malformation, Microphthalmia, Anencephaly, Lobar holoprosencephaly, Anophthalmia, Si... ORPHA:564
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Tapered finger, Finger syndactyly, Camptodactyly, Microcephaly ORPHA:435938
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Webbed neck, Pulmonic stenosis, Sandal gap, Jo... OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cerebellar cyst, Microphthalmia, Partial absence of cerebellar vermis, Cerebellar dy... OMIM:613150
Marden-Walker Syndrome
Dextrocardia, Dandy-Walker malformation, Microphthalmia, Talipes equinovarus, Arachnodactyly, Inf... OMIM:248700
Microcephaly-Micromelia Syndrome
Microphthalmia, Talipes equinovarus, Humeroradial synostosis, Cystic hygroma, Simplified gyral pa... OMIM:251230
Congenital Rubella Syndrome
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the met... ORPHA:290
Cerebrooculofacioskeletal Syndrome 4
Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Dislocated radial head, Simplifie... OMIM:610758
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications, Delayed eruption of primary teeth ORPHA:90322
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Sandestig-Stefanova Syndrome
Microphthalmia, Rocker bottom foot, Perimembranous ventricular septal defect, Clinodactyly, Prima... OMIM:618804
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Abnormality of the calcaneus, Metaphyseal cupping of metacarpals, Rhizomelia, Sho... ORPHA:163966
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Ectopic posterior pituitary OMIM:610125
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Microphthalmia, Duplication of phalanx of hallux, Pachygyria, Aortic valve... OMIM:243310
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Microphthalmia, Clinodactyly OMIM:610023
Curry-Jones Syndrome
Cutaneous finger syndactyly, Microphthalmia, Megalencephaly, Hemimegalencephaly, Broad thumb, Syn... OMIM:601707
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Adducted thum... OMIM:614643
Stevenson-Carey Syndrome
Microphthalmia, Atrial septal defect, Cerebellar hypoplasia, Camptodactyly, Hypoplasia of the cor... OMIM:611961
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Cerebellar hypoplasia OMIM:618805
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly, Broad neck, Cerebellar vermis hypoplasia, Hypoplasia of th... OMIM:619185
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Talipes equinovarus, Delayed eruption of teeth, Broad hallux, Aortic valve st... OMIM:300166
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Cereb... ORPHA:1692
Joubert Syndrome 21
Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Elongated superior ... OMIM:615636
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria... ORPHA:2328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Abnormal heart m... ORPHA:453499
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Skin Creases, Congenital Symmetric Circumferential, 1
Dandy-Walker malformation, Microphthalmia, Long fingers, Cerebellar vermis atrophy, Short neck, H... OMIM:156610
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger ORPHA:48431
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Single vent... OMIM:601186
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly OMIM:614105
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Aniridia, Sandal gap, Macrocephaly, Bi... ORPHA:251038
Mosaic Trisomy 9
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Talipes equin... ORPHA:99776
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Cerebellar vermis hypop... OMIM:243605
Adams-Oliver Syndrome
Microphthalmia, Finger syndactyly, Abnormality of the metacarpal bones, Absent hand, Split hand, ... ORPHA:974
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect, Shortening of all distal phalanges of the fingers,... OMIM:619135
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Over... OMIM:619148
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... ORPHA:352665
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Colpocephaly, Absent sept... OMIM:309801
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Tapered finger, Branchial fistula, Webbed neck, Low po... ORPHA:261337
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger OMIM:609166
Joubert Syndrome 14
Dandy-Walker malformation, Microphthalmia, Hydrocephalus, Postaxial polydactyly OMIM:614424
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Microphthalmia, Mitral valve prolapse, Anoph... ORPHA:2556
Charge Syndrome
Dandy-Walker malformation, Bifid femur, Microphthalmia, Anophthalmia, Holoprosencephaly, Abnormal... ORPHA:138
Curry-Jones Syndrome
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly... ORPHA:1553
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Warburg Micro Syndrome 2
Microphthalmia, Global brain atrophy, Overlapping toe, Polymicrogyria, Secondary microcephaly, Hy... OMIM:614225
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Short 5th metacarpal, Anophthalmia, Finger syndactyly, Anterior pituitary hypopla... ORPHA:264200
Spondylo-Ocular Syndrome
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens, Webbed neck, Low poste... ORPHA:85194
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Microphthalmia, Hypoplasia of the olfactory... ORPHA:2250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Aplasia/Hypoplasia of the thumb, Absent radius, Abnormal cardiac septum morpholog... ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Buphthalmos, Microphthalmia, Cerebellar dysplasia, Optic nerve hypopla... OMIM:236670
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Moebius Syndrome
Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i... OMIM:157900
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Synostosis of carpal bones, Subvalvular aortic stenosis, Short neck, Membranous s... ORPHA:3191
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Short neck, Low posterior hairline, Bilateral microphthalmos, Cervical spina bifida OMIM:600122
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Tapered finger, Cerebral white ... ORPHA:435638
Neu-Laxova Syndrome 1
Small placenta, Finger syndactyly, Cerebellar hypoplasia, Camptodactyly, Toe syndactyly, Ventricu... OMIM:256520
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short tibia, Toe syndacty... ORPHA:1106
Joubert Syndrome 2
Microphthalmia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Abnormal corp... OMIM:608091
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Ventricular septal defect, Microphthalmia, Microcephaly,... OMIM:234050
Fanconi Anemia, Complementation Group S
Clinodactyly, Microphthalmia, Proximal placement of thumb, Microcephaly OMIM:617883
Micro Syndrome
Microphthalmia, Pachygyria, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callos... ORPHA:2510
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Anophthalmia, Aniridia, Ulnar deviation of finger, Tricuspid valve prolapse,... ORPHA:1101
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Hydranencephaly, Microphthalmia, 4-5 toe syn... OMIM:260660
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Cerebellar vermis hypoplasi... ORPHA:494344
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Kapur-Toriello Syndrome
Ventricular septal defect, Microphthalmia, Clinodactyly of the 5th toe, Pachygyria, Atrial septal... OMIM:244300
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Focal Dermal Hypoplasia
Short metatarsal, Delayed eruption of teeth, Foot polydactyly, Hydrocephalus, Short phalanx of fi... OMIM:305600
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Branchial fistula, Ulnar deviation... ORPHA:261330
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Webbed neck, Aplasia/Hypoplasia of the thumb, Finger syndactyl... ORPHA:1587
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Microcephaly ORPHA:2399
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Talipes equinovarus, Foot polydactyly, Shor... ORPHA:250989
Charge Syndrome
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Overriding aorta, Hand polydactyly, Um... OMIM:214800
Cockayne Syndrome Type 1
Anophthalmia, Basal ganglia calcification, Delayed eruption of primary teeth ORPHA:90321
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula OMIM:113650
Fraser Syndrome 1
Abnormal cortical gyration, Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Abnormal... OMIM:219000
Xeroderma Pigmentosum, Complementation Group B
Basal ganglia calcification, Cerebellar atrophy, Microphthalmia, Microcephaly OMIM:610651
Proboscis Lateralis
Ventricular septal defect, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic nerve hypoplasi... ORPHA:141099
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Microphthalmia, Arachnodactyly, Simplified gyral pattern, Pachygyria, Hypopla... OMIM:617729
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Linear Nevus Sebaceus Syndrome
Dandy-Walker malformation, Microphthalmia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplas... ORPHA:2612
Holoprosencephaly 2
Microphthalmia, Holoprosencephaly, Single ventricle, Anterior pituitary agenesis, Cerebellar hypo... OMIM:157170
Martsolf Syndrome 1
Metatarsus adductus, Slender ulna, Microphthalmia, Talipes equinovarus, Cardiomyopathy, Short met... OMIM:212720
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Fetal Alcohol Syndrome
Biparietal narrowing, Atrial septal defect, Microphthalmia, Microcephaly ORPHA:1915
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Complete atrioventricular canal defect, Arrhinencephaly, Ventricular ... OMIM:236680
Mend Syndrome
Dandy-Walker malformation, 2-3 toe syndactyly, Microphthalmia, Abnormal heart morphology, Long fi... ORPHA:401973
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abno... ORPHA:2166
Ring Chromosome 10 Syndrome
Short neck, Tapered finger, Microphthalmia, Sandal gap ORPHA:1438
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, Absent radius, Atrial s... OMIM:600123
Meckel Syndrome, Type 1
Foot polydactyly, Syndactyly, Hydrocephalus, Cerebellar hypoplasia, Cerebral hypoplasia, Large pl... OMIM:249000
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Osteolytic defects of the dist... ORPHA:50815
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Adducted ... ORPHA:464738
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Jacobsen Syndrome
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Macular hypoplasia, Clinodactyly of... OMIM:147791
Pelvis-Shoulder Dysplasia
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Fifth finger distal... ORPHA:2839
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Simplified gyral pattern, Microphthalmia, Microcephaly OMIM:152950
Monosomy 9Q22.3
Chiari malformation, Microphthalmia, Polydactyly, Delayed eruption of teeth, Cardiac fibroma, Hyd... ORPHA:77301
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Abnormal he... ORPHA:404440
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Toe syndactyly, Microphthalmia, Talipes equinov... OMIM:100300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Abnormal heart morphology, Inferior vermis hypoplasia, Short neck, Overlapping toe OMIM:618571
Phace Syndrome
Dandy-Walker malformation, Lens coloboma, Microphthalmia, Abnormal heart morphology, Optic nerve ... ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finger, Cerebral hypopl... ORPHA:468631
Trisomy 18
Ventricular septal defect, Chiari malformation, Microphthalmia, Anencephaly, Holoprosencephaly, W... ORPHA:3380
Galloway-Mowat Syndrome 1
Dandy-Walker malformation, Cerebellar atrophy, Microphthalmia, Hypoplasia of the iris, Talipes eq... OMIM:251300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Abnorm... ORPHA:251014
Fanconi Anemia, Complementation Group L
Absent thumb, Short neck, Microphthalmia, Hydrocephalus OMIM:614083
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Foo... ORPHA:3186
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Agenesis of corpus callosum, Agenesis of cerebellar vermis ORPHA:228390
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Microphthalmia, Camptodactyly of finger ORPHA:2547
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia, Microcephaly ORPHA:1942
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/... ORPHA:2788
Microphthalmia, Syndromic 6
Toe syndactyly, Short middle phalanx of finger, Microphthalmia, Anterior hypopituitarism, Polydac... OMIM:607932
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Microphthalmia, Mitral valve prolapse, Hammertoe, Delayed eruption of teeth, ... ORPHA:2712
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Broad hallux, Ventricular septal d... ORPHA:508498
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Hydrocephalus, Flared metaphysis, Brachydactyly OMIM:602361
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Microphthalmia, Hydrocephalus, Septo-optic dysplasia ORPHA:3301
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Microphthalmia OMIM:169550
Oculopalatocerebral Syndrome
Microphthalmia, Microcephaly OMIM:257910
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Microphthalmia, Foot polydactyly, Hydrocephalus, Short palm, Agenesis ... ORPHA:268249
Fryns Syndrome
Dandy-Walker malformation, Microphthalmia, Thickened nuchal skin fold, Clinodactyly of the 5th fi... ORPHA:2059
Pallister-Hall Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Mesoaxial hand polydactyly, Oligodacty... OMIM:146510
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia, Microcephaly ORPHA:2728
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Microphthalmia, Lenz Type
Microphthalmia, Webbed neck, Delayed eruption of teeth, Finger syndactyly, Complete duplication o... ORPHA:568
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Atrial septal defect, Microphthalmia, Brachydactyly OMIM:614526
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Hemiatro... ORPHA:163649
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Microphthalmia, Polydactyly, Short distal phalanx of the thumb, Brachydactyl... OMIM:109400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Macrocephaly, Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group D2
Microphthalmia, Abnormal heart morphology, Complete duplication of thumb phalanx, Absent radius, ... OMIM:227646
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Micr... OMIM:304050
Holoprosencephaly 7
Macrocephaly, Hydrocephalus, Panhypopituitarism, Alobar holoprosencephaly, Bilateral microphthalm... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of the retina, Pac... OMIM:253280
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Atrial septal defect, Microphthalmia, Microcephaly ORPHA:2526
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia, Broad finger, Broad toe, Small hand, Subvalvular aortic stenosis, Short foot, Sho... OMIM:271960
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly, Abnormal heart morphology, Aplasia/Hypoplasia of the thumb, Hy... OMIM:184705
Branchiooculofacial Syndrome
Microphthalmia, Agenesis of cerebellar vermis, Anophthalmia, Proximal placement of thumb, Branchi... OMIM:113620
Yunis-Varon Syndrome
Arrhinencephaly, Redundant neck skin, Short middle phalanx of finger, Syndactyly, Hydrocephalus, ... ORPHA:3472
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Global brain atrophy, Small hand, Frontal cortical atrophy, Short foot, Aplasia/H... ORPHA:2714
Holoprosencephaly 1
Microphthalmia, Single ventricle, Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, ... OMIM:236100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse, Adducted thumb, Unilateral microphthalmos, Polymicrogyria, Macrocephaly, M... OMIM:618874
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Microphthalmia, Holoprosencephaly, Subvalvular aortic stenosis, Aplasi... ORPHA:1052
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Microcephaly ORPHA:2505
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Clinodactyly, Short neck, Syndactyly, Campt... ORPHA:369891
Chondrodysplasia Punctata 2, X-Linked Dominant
Dandy-Walker malformation, Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, ... OMIM:302960
3Q29 Microdeletion Syndrome
Microphthalmia, Tapered finger, Subvalvular aortic stenosis, Macrocephaly, Clinodactyly of the 5t... ORPHA:65286
Fraser Syndrome
Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Finger syndactyly, Umbilical hern... ORPHA:2052
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Familial Exudative Vitreoretinopathy
Microphthalmia, Microcephaly ORPHA:891
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Microphthalmia, Hypoplasia of olfactory tract ORPHA:1791
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Fanconi Anemia, Complementation Group F
Microphthalmia, 2-3 finger syndactyly, Hypoplasia of the radius, Atrial septal defect, Short thum... OMIM:603467
Bartsocas-Papas Syndrome 2
Absent distal phalanges, Small hand, Microphthalmia OMIM:619339
8Q24.3 Microdeletion Syndrome
Branchial cyst, Truncus arteriosus, Global brain atrophy, Finger clinodactyly, Short femur, Ventr... ORPHA:508488
Phace Association
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia, Cer... OMIM:606519
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Microphthalmia, Metaphyseal widening, Phthisis bulbi, Microcephaly OMIM:259770
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Fanconi Anemia, Complementation Group E
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... OMIM:600901
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Opti... OMIM:607323
Frontorhiny
Microphthalmia, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of ... ORPHA:391474
Fanconi Anemia, Complementation Group A
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... OMIM:227650
Teebi-Shaltout Syndrome
Metatarsus adductus, Ventricular septal defect, Microphthalmia, Talipes equinovarus, Rocker botto... OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyl... OMIM:616300
Refsum Disease
Short metacarpal, Microphthalmia, Cardiomyopathy, Hammertoe ORPHA:773
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Brachydactyly, Prominent fingertip pads, Short palm ORPHA:466950
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Fryns Syndrome
Dandy-Walker malformation, Ventricular septal defect, Arrhinencephaly, Microphthalmia, Rocker bot... OMIM:229850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse, Microphthalmia, Tapered finger, Arachnodactyly,... ORPHA:193
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
8Q21.11 Microdeletion Syndrome
Microphthalmia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of fi... ORPHA:284160
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Clubbing of fingers, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Microphthalmia, Absent radius OMIM:115470
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Microphthalmia OMIM:619053
Oculodentodigital Dysplasia
Microphthalmia, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, 4-5 finger syndactyly... OMIM:164200
Histiocytoid Cardiomyopathy
Ventricular septal defect, Microphthalmia, Congenital aphakia, Cardiomegaly, Cerebellar malformat... ORPHA:137675
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Microphthalmia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, ... OMIM:616975
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Short foot, Bilateral microphthalmos OMIM:607597
Bor Syndrome
Branchial cyst ORPHA:107
Focal Dermal Hypoplasia
Toe syndactyly, Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Finger syndact... ORPHA:2092
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... ORPHA:84
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Treacher-Collins Syndrome
Branchial fistula, Microphthalmia ORPHA:861
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Aicardi Syndrome
Partial agenesis of the corpus callosum, Microphthalmia, Small hand, Pachygyria, Aplasia/Hypoplas... ORPHA:50
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Otodental Syndrome
Lens coloboma, Microphthalmia, Delayed eruption of teeth ORPHA:2791
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Hallermann-Streiff Syndrome
Microphthalmia, Small hand, Natal tooth, Short foot, Cerebellar hypoplasia, Clinodactyly of the 5... ORPHA:2108
Roberts Syndrome
Microphthalmia, Patellar aplasia, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Meso... ORPHA:3103
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Microcephaly OMIM:278730
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Microphthalmia, Absent radius, Complete duplication of thumb phalanx, ... OMIM:227645
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, 3-4 toe syndactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Clino... OMIM:618727
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Fifth finger distal phalanx clinodactyly, Small hand, Delayed eruption of teeth, ... OMIM:257850
Cockayne Syndrome B
Microphthalmia, Normal pressure hydrocephalus, Hypoplasia of the iris, Ivory epiphyses of the pha... OMIM:133540
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Microphthalmia, Triphalangeal thumb, Radial c... ORPHA:959
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Tapered finger, Camptodactyly of finger, Broad thumb, Microcephaly ORPHA:1236
Incontinentia Pigmenti
Microphthalmia, Delayed eruption of teeth, Finger syndactyly, Deviation of finger, Abnormal hand ... ORPHA:464
Momo Syndrome
Large hands, Delayed eruption of teeth, Bilateral microphthalmos, Macrocephaly, Femoral bowing, S... ORPHA:2563
Trichothiodystrophy
Partial agenesis of the corpus callosum, Ventricular septal defect, Diffuse cerebellar atrophy, C... ORPHA:33364
Myhre Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Pericardial effusion, Short finger... OMIM:139210
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Microphthalmia, Postaxial polydactyly, Neonatal death, Fi... OMIM:617925
Pallister-Hall Syndrome
Abnormal prolactin level, Arrhinencephaly, Polydactyly affecting the 4th finger, Broad toe, Mesoa... ORPHA:672
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Microphthalmia, Abnormal heart morphology, Neonatal death, Absent distal p... OMIM:612289
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Microcephaly OMIM:601675
Hallermann-Streiff Syndrome
Microphthalmia, Metaphyseal widening, Spina bifida, Natal tooth, Microcephaly OMIM:234100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Bowing of the legs, Bowing of the long bones, Metaphyseal irregularity, Rhizomeli... ORPHA:85167
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Ventricular septal defect, Microphthalmia, Occipital myelomeningoce... ORPHA:567
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Monosomy 9P
Microphthalmia, Webbed neck, Proximal placement of thumb, Abnormality of the tarsal bones, Postax... ORPHA:261112
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Microcephaly, Aplasia of the dis... ORPHA:364577
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris, Delayed eruption of teeth, Syndactyly, Clinodactyly of th... OMIM:223370
Rodrigues Blindness
Microphthalmia OMIM:268320
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Microphthalmia, Hypoplasia of the iris, Schizencephaly, Leukoencephalopathy, ... OMIM:175780
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pericallosal lipoma, Tetralogy of Fallot, Camptodactyly of finger, Finger clinoda... ORPHA:306542
Kenny-Caffey Syndrome, Type 2
Basal ganglia calcification, Macrocephaly, Microphthalmia, Abnormality of the medullary cavity of... OMIM:127000
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Microphthalmia, Short finger, Aplasia of the distal phalanx of the 5th... OMIM:608670
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Incontinentia Pigmenti
Delayed eruption of teeth, Microphthalmia, Hypoplasia of the fovea, Microcephaly OMIM:308300
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Microphthalmia, Anophthalmia, Webbed neck, Radial deviation of finger, Syn... OMIM:309800
Cockayne Syndrome Type 3
Microphthalmia, Cerebral white matter atrophy, Cardiomyopathy, Subcortical white matter calcifica... ORPHA:90324
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Talipes equinovarus ORPHA:35173
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... ORPHA:261537
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Chiari malformation, Microphthalmia, Triphalangeal thumb, A... ORPHA:857
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Microphthalmia, Hand oligodactyly, Stillbirth, Cystic hygroma, Abnorma... OMIM:268300
Oculoauricular Syndrome
Microphthalmia, Microphakia, Phthisis bulbi, Macular hypoplasia, Spina bifida occulta OMIM:612109
Renpenning Syndrome 1
Ventricular septal defect, Microphthalmia, Synostosis of the proximal phalanx of the thumb with t... OMIM:309500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Mowat-Wilson Syndrome
Ventricular septal defect, Microphthalmia, Large basal ganglia, Abnormal heart morphology, Abnorm... OMIM:235730
Cockayne Syndrome
Cerebellar atrophy, Microphthalmia, Cerebral calcification, Primary microcephaly, Subcortical whi... ORPHA:191
Witteveen-Kolk Syndrome
Toe syndactyly, Microphthalmia, Dysplastic corpus callosum, Proximal placement of thumb, Arachnod... OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Postnatal macrocephaly, Thin long bone diaphyses, Ste... ORPHA:93325
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... ORPHA:261552
Degcags Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Polydactyly, Talipes equinovarus, Pulm... OMIM:619488
Bartsocas-Papas Syndrome 1
Microphthalmia, Talipes equinovarus, Limb undergrowth, Ulnar bowing, Absent radius, Short metacar... OMIM:263650
Papillorenal Syndrome
Microphthalmia OMIM:120330
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Talipes equinovarus, Small hand, Delayed eruption of teeth, Short foot, Short thu... OMIM:268400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Neuroocular Syndrome
Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Hyperextensibility of the finger joints, ... OMIM:619539
Mowat-Wilson Syndrome
Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... ORPHA:2152
Persistent Hyperplastic Primary Vitreous
Macular hypoplasia, Buphthalmos, Phthisis bulbi, Microphthalmia ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Acrofrontofacionasal Dysostosis 1
Broad thumb, Short metacarpal, Microphthalmia, Short distal phalanx of finger OMIM:201180
Norrie Disease
Microphthalmia, Abnormality of the diencephalon, Aplasia/Hypoplasia of the lens, Hypoplasia of th... ORPHA:649
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus OMIM:273395
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Abnormality of the metaphysis, Delayed eruption of teeth, Genu valgu... ORPHA:534
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Periventricular cysts, Genu valgum, Camptodactyly of finger, Finger swelling OMIM:309000
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Treacher Collins Syndrome 1
Abnormal heart morphology, Bilateral microphthalmos OMIM:154500

Histopathology

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

There is no histopathology data for Frs2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Frs2.

No publications found that use IMPC mice or data for Frs2.

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MGI Allele Allele Type Produced
Frs2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Frs2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Frs2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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