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 1.18×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote Ambiguous
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Not available
Ear N/A heterozygote 0.0% (0 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 33.33% (1 of 3)
Footplate N/A heterozygote Not available
Forebrain N/A heterozygote Not available
Forelimb N/A heterozygote 33.33% (1 of 3)
Handplate N/A heterozygote Not available
Head N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 33.33% (1 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

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

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

28 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
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Microcephaly, Brachydactyly,... OMIM:233270
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Talipes equinovarus, Microphtha... OMIM:616570
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephaloce... OMIM:164180
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Microcephaly, Talipes equinova... OMIM:613885
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... OMIM:613155
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Anophthalmia, Neonatal death, Ventricular septal defect, Microphthalmia OMIM:615524
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe... OMIM:613153
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Ventricular septal defect ORPHA:1296
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... ORPHA:139471
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:617255
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hydrolethalus
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, M... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dy... OMIM:615181
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Macrocephaly at birth, H... ORPHA:324416
Mmep Syndrome
Ventricular septal defect, Microcephaly, Triphalangeal thumb, Microphthalmia, Split foot ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Type II lissencephaly, Hydrocephalus, Microphthalmia OMIM:614830
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Ventricular septal defect, Hydrocephalus, Microphthalm... ORPHA:77298
Walker-Warburg Syndrome
Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucid... ORPHA:899
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased nuchal translucency... ORPHA:261344
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosum, Dysplast... OMIM:614833
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Microcephaly, Short n... ORPHA:1466
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Ventricular septal defect, Bowing of the long b... OMIM:611134
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebr... ORPHA:77299
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Congenital Varicella Syndrome
Cerebral cortical atrophy, Micromelia, Microcephaly, Microphthalmia ORPHA:291
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... OMIM:600118
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... ORPHA:370959
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Ventricular septal defect, Progressive macrocephaly, Hydrocephalus, ... OMIM:602501
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Neonatal death, Cerebellar hypoplasia, Ventricular septal defect, Microph... OMIM:613730
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Agen... OMIM:300887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Trisomy 13
Chiari malformation, Ectrodactyly, Aplasia/Hypoplasia of the iris, Anophthalmia, Ventricular sept... ORPHA:3378
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Cerebell... OMIM:614219
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... OMIM:251270
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Abnormal cerebellum morphology, Redundant neck skin, Ventricular septal d... OMIM:618652
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Congenital Toxoplasmosis
Cerebral calcification, Cardiomegaly, Microcephaly, Hydrocephalus, Microphthalmia ORPHA:858
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Anophthalmia ORPHA:1104
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Seckel Syndrome 2
Basal ganglia calcification, Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Microphth... OMIM:606744
Verheij Syndrome
Short 5th finger, Clinodactyly, Cerebral atrophy, Branchial cyst, Ventricular septal defect, Trun... OMIM:615583
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia ORPHA:141333
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... ORPHA:2117
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Pierpont Syndrome
Abnormal cortical gyration, Chiari malformation, Prominent fingertip pads, Short toe, Short finge... ORPHA:487825
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Clinodactyly, Radial deviation of finger,... OMIM:136760
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal metaphysis morphology, Agenesis of corpus callosum, Bowing of the long bones... ORPHA:93267
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Baraitser-Winter Syndrome 2
Webbed neck, Secondary microcephaly, Agenesis of corpus callosum, Short neck, Microphthalmia, Pac... OMIM:614583
Fanconi Anemia, Complementation Group I
Chiari malformation, Absent thumb, Short 1st metacarpal, Short thumb, Absent septum pellucidum, P... OMIM:609053
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Joubert Syndrome 22
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:615665
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Nanophthalmos
Microphthalmia ORPHA:35612
Pierpont Syndrome
Chiari malformation, Prominent fingertip pads, Short toe, Short finger, Microcephaly, Short neck,... OMIM:602342
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the brainste... OMIM:253800
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Delayed eruption of teeth, Basal ganglia calcification, Agenesis of corpus ca... OMIM:214150
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Microcephaly, Pulmonic stenosis ORPHA:1131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Microphthalmia, Encepha... OMIM:613150
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:613001
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Branchial anom... ORPHA:2162
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Complete atrioventricular canal defect... OMIM:264480
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Meckel Syndrome, Type 2
Cystic hygroma, Encephalocele, Polydactyly, Bowing of the long bones, Microphthalmia, Postaxial h... OMIM:603194
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint contracture of the... OMIM:618914
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Microcephaly-Micromelia Syndrome
Cystic hygroma, Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum,... OMIM:251230
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Chiari type I malformation, Microcephaly, Hydrocephalus, Micropht... OMIM:617244
Bresek Syndrome
Neonatal death, Microcephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Optic ne... ORPHA:85284
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... ORPHA:564
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Temtamy Syndrome
Short toe, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Brachydactyly, Microphthalmia... ORPHA:1777
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:248700
Monosomy 18P
Webbed neck, Low posterior hairline, Microcephaly, Short neck, Brachydactyly, Microphthalmia, Hol... ORPHA:1598
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Short thumb, Ectrodactyly, Abnormal morphology of the radius, Oligoda... ORPHA:2538
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Abnorma... OMIM:618494
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... OMIM:616538
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Anophthalmia, Pos... OMIM:605627
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Microcephaly, Camptodactyly, Tapered finger ORPHA:435938
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Cerebellar hypoplas... ORPHA:163966
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Agenesis of corpus callosum, Low posterior hairline, Microcephaly, Short n... OMIM:243310
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia OMIM:618805
Microphthalmia, Syndromic 8
Microcephaly, Split foot, Microphthalmia OMIM:601349
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Hand clenching, Global brain atrophy, Cerebral atrophy, Camptodacty... OMIM:616920
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Hypoplasia of the corpus callosum, Short neck, ... OMIM:618804
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Anophthalmia, Ventricular... OMIM:601186
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:206900
Vacterl With Hydrocephalus
Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Hypoplasia of the radius, Aqueductal s... ORPHA:3412
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications, Delayed eruption of primary teeth ORPHA:90322
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of the corpu... OMIM:614424
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Curry-Jones Syndrome
Broad thumb, Polymicrogyria, Preaxial hand polydactyly, Hemimegalencephaly, Preaxial foot polydac... OMIM:601707
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Ventricular septal defect, Microcephaly, Atrial septal defect, Mi... ORPHA:290
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Microcephaly, Thin corpus callosum, Microphthalmia OMIM:619694
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Hypoplasia of the corpus callosum, Contractu... OMIM:300166
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus c... ORPHA:1692
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia... ORPHA:453499
Cerebrooculofacioskeletal Syndrome 4
Flexion contracture of toe, Bilateral microphthalmos, Polymicrogyria, Camptodactyly of finger, Fl... OMIM:610758
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Dysplastic corpus callosum, Short... ORPHA:2328
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Braddock-Carey Syndrome 2
Microcephaly, Clinodactyly, Microphthalmia OMIM:619981
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Anophthalmia, Microcephaly, Short neck, Hyd... OMIM:610829
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Microphthalmia, Cortical dysplasia ORPHA:261272
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Broad hallux, Hypoplasia of the corpus callosum, Microcephaly, Micr... OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Cerebellar malformation, Cerebell... OMIM:236670
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Stromme Syndrome
Cerebellar vermis hypoplasia, Stillbirth, Preaxial polydactyly, Agenesis of corpus callosum, Cere... OMIM:243605
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Broad neck, Hypoplasia of the corpus callosum, Postaxial polydactyl... OMIM:619185
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Hyperintensity of cerebral white matter on M... ORPHA:48431
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Hypoplasia of the co... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Hypoplasia of the co... ORPHA:352665
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Unilateral microphthalmos, Bicuspid aortic valve, Bilateral microphthalmos OMIM:619318
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Atrioventricular canal defect, Short first me... OMIM:619135
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Macrocephaly, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Atrial septal defect, Microphthalmia, C... OMIM:611961
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Absent septum pellucidum, Anophthalmia, Agen... ORPHA:2556
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... ORPHA:1553
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Delayed eruption of teeth, Overlapping toe, Distally placed thumb, Encephalocele, Ag... OMIM:619148
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Microce... ORPHA:250989
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mosaic Trisomy 9
Webbed neck, Micromelia, Finger clinodactyly, Camptodactyly of finger, Abnormal heart valve morph... ORPHA:99776
Moebius Syndrome
Hand clenching, Clinodactyly, Radial deviation of finger, Hypoplasia of the brainstem, Aplasia/Hy... OMIM:157900
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Macrocephaly, Aniridia, Ventricular septal defect, Camptodactyly of t... ORPHA:251038
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Tetralogy of Fallot, Absent hand, Periventricu... ORPHA:974
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Ventricular septal defec... ORPHA:261337
Joubert Syndrome 21
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of the corpus cal... OMIM:615636
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly, Talipes equinovarus, ... OMIM:612530
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, Aniridia, Anophthalmia, Tal... ORPHA:1101
Temtamy Syndrome
Agenesis of corpus callosum, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe, T... OMIM:218340
Spondylo-Ocular Syndrome
Webbed neck, Ventricular septal defect, Low posterior hairline, Short neck, Aplasia/Hypoplasia of... ORPHA:85194
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Agene... ORPHA:264200
Charge Syndrome
Webbed neck, Bifid femur, Delayed eruption of teeth, Umbilical hernia, Abnormal tibia morphology,... ORPHA:138
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Focal Dermal Hypoplasia
Toe syndactyly, Chiari malformation, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, F... OMIM:305600
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Subvalvular aortic stenosis, Microphthalmia, Membranous s... ORPHA:3191
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Secondary microcephaly, Hypoplasia of the corpus c... OMIM:615663
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San... ORPHA:261330
Joubert Syndrome 2
Abnormal corpus callosum morphology, Postaxial foot polydactyly, Dysgenesis of the cerebellar ver... OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Microcephaly, Short neck, Long fing... OMIM:156610
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cerebrooculofacioskeletal Syndrome 2
Microcephaly, Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-3 toe syndact... OMIM:616449
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial... ORPHA:50815
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Ventricular septal defect, Microcephaly, Microphthalmia, Partial agene... OMIM:234050
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventr... ORPHA:494344
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular s... OMIM:309801
Cat-Eye Syndrome
Microphthalmia ORPHA:195
8Q24.3 Microdeletion Syndrome
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Ventricular septal def... ORPHA:508488
Fraser Syndrome 1
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Abnormal heart morphology... OMIM:219000
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Cockayne Syndrome Type 1
Basal ganglia calcification, Anophthalmia, Delayed eruption of primary teeth ORPHA:90321
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Polymicrogyria, Tetralogy of Fallo... OMIM:100300
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpus callosum, Neonatal death, Ven... OMIM:256520
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal cardiac septum mo... ORPHA:1352
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... ORPHA:2166
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Increased nuchal translucency, Bowing of the... OMIM:619879
Micro Syndrome
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... ORPHA:2510
Gracile Bone Dysplasia
Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia OMIM:602361
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inferior cerebellar vermis hypoplasia, Abnormal heart morphology, Overlapping toe, Short neck, Mi... OMIM:618571
Martsolf Syndrome 1
Broad femoral neck, Short toe, Slender ulna, Cardiomyopathy, Avascular necrosis of the capital fe... OMIM:212720
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... OMIM:607597
Ring Chromosome 10 Syndrome
Short neck, Tapered finger, Sandal gap, Microphthalmia ORPHA:1438
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Delayed erupti... OMIM:300952
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Failure of eruption of permanent teeth, Anophthalmia, Microphth... ORPHA:2250
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria OMIM:612379
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Lateral ventricle dilatation, Cerebral atrophy, Finger syndactyly, C... ORPHA:464738
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Postaxial polydactyly, Cer... ORPHA:435638
Kapur-Toriello Syndrome
Short thumb, Polymicrogyria, Camptodactyly of finger, Overlapping fingers, Ventricular septal def... OMIM:244300
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Abnormal lower limb bone morphology, Metaphyseal widening,... ORPHA:2788
Phace Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Agenesis of corpus callosum, Cerebellar hypoplasi... ORPHA:42775
Warburg Micro Syndrome 2
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Hypoplasia of the ... OMIM:614225
Cousin Syndrome
Hydranencephaly, Rhizomelia, Macrocephaly, Fibular aplasia, Dislocation of the femoral head, Hume... OMIM:260660
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... ORPHA:391474
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cerebellar atrophy, Microphthalmia OMIM:301108
Mend Syndrome
Aortic valve stenosis, Broad hallux, Long neck, Thickened nuchal skin fold, Abnormal heart morpho... ORPHA:401973
Proboscis Lateralis
Abnormal corpus callosum morphology, Anophthalmia, Ventricular septal defect, Macrocephaly, Micro... ORPHA:141099
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele, Hypoplasia of the corpus callosum, Hypoplasia of olfactory tract ORPHA:1791
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Clinodactyly of the 5th finger, Microphthalmia OMIM:169550
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Microphthalmia ORPHA:2547
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Charge Syndrome
Unilateral microphthalmos, Anophthalmia, Ventricular septal defect, Overriding aorta, Atrial sept... OMIM:214800
Oculofaciocardiodental Syndrome
Short thumb, Delayed eruption of teeth, Genu valgum, Flexion contracture of the 4th toe, Mitral v... ORPHA:2712
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven... ORPHA:508498
Monosomy 13Q14
Webbed neck, Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplas... ORPHA:1587
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... OMIM:610828
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... ORPHA:468631
Fanconi Anemia, Complementation Group S
Microcephaly, Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Branchiootorenal Syndrome 1
Abnormal cerebral morphology, Branchial fistula, Branchial cyst OMIM:113650
Holoprosencephaly 1
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Singl... OMIM:236100
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... OMIM:614222
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hypoplasia of the corpus callosum, A... OMIM:613884
Jacobsen Syndrome
Macrocephaly, Ventricular septal defect, Microcephaly, Macular hypoplasia, Short neck, Hydrocepha... OMIM:147791
Fryns Syndrome
Cerebral cortical atrophy, Short distal phalanx of finger, Thickened nuchal skin fold, Tetralogy ... ORPHA:2059
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Short neck, Mic... ORPHA:163649
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Ventricular septal defect, Hydrocephalus, Microphthalmia, Foot polyd... ORPHA:268249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormal heart morphology, Patent foram... ORPHA:369891
Fetal Alcohol Syndrome
Microcephaly, Biparietal narrowing, Atrial septal defect, Microphthalmia ORPHA:1915
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Short ne... ORPHA:251014
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Monosomy 9Q22.3
Chiari malformation, Delayed eruption of teeth, Umbilical hernia, Macrocephaly, Calcification of ... ORPHA:77301
Galloway-Mowat Syndrome 1
Hand clenching, Slender finger, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem... OMIM:251300
Hydrolethalus Syndrome 1
Broad neck, Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb undergr... OMIM:236680
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Xeroderma Pigmentosum, Complementation Group B
Basal ganglia calcification, Cerebellar atrophy, Microcephaly, Microphthalmia OMIM:610651
Myoclonic-Astatic Epilepsy
Microcephaly, Syndactyly, Microphthalmia ORPHA:1942
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndacty... OMIM:607932
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cavum septum pellucidum, Macrocephaly, Microphthalmia, Clinodactyly of the 5th finger, Relative m... OMIM:617306
Trisomy 18
Webbed neck, Chiari malformation, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:3380
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Arachnodactyly, Microcep... OMIM:617729
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Microcephaly, Simplified gyral pattern OMIM:152950
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Slender metacarpals, Coxa valga, Microphthalmia OMIM:620601
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Chiari malformation, Occipital encephalocele, Clinodactyly, Natal too... OMIM:249000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula... ORPHA:404440
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Absent radius, Abnormal heart morphology, P... OMIM:227646
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microcephaly, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Ventricular septal defect, Microcephaly, Short neck, Hypoplasia of the... OMIM:610832
Frontonasal Dysplasia 2
Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Mic... OMIM:613451
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Craniofacial Microsomia 1
Chiari malformation, Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Branchial anomaly... OMIM:164210
Aicardi Syndrome
Cerebellar vermis hypoplasia, Chiari malformation, Lateral ventricle dilatation, Polymicrogyria, ... OMIM:304050
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Microcephaly, Aplasia/Hypoplasia of the thumb, Overriding ... ORPHA:3186
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplasia of the cere... ORPHA:2612
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Natal tooth, Short tibia, Stillbirth, Preaxial polydactyly, Encephalocele, Fibular hy... OMIM:616300
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia OMIM:619339
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Macrocephaly, Calcification of falx cerebri, Cardiac rhabdomyo... OMIM:109400
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Ventricular septal defe... ORPHA:3472
Microphthalmia, Lenz Type
Webbed neck, Finger syndactyly, Delayed eruption of teeth, Aplasia/Hypoplasia of the corpus callo... ORPHA:568
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... OMIM:146510
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Preaxial polydact... OMIM:607323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Short foot, Short palm OMIM:241410
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Branchial anomaly, Anophthalmia, Low posterior hairline, ... OMIM:113620
Steinfeld Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of... OMIM:184705
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmi... ORPHA:2052
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Macrocephaly, Joint contracture of the 5th finger, 2-3 toe syndactyly, ... OMIM:620098
Mosaic Variegated Aneuploidy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Increased nuchal translucency, Microcephaly, Aplasia/H... ORPHA:1052
Phace Association
Ventricular septal defect, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Opti... OMIM:606519
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Macrocephaly OMIM:615085
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Branchial anomaly, Prominent fingertip pads, Short palm ORPHA:466950
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Atrial septal defect, Microphthalmia ORPHA:2728
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia OMIM:257910
Nasopalpebral Lipoma-Coloboma Syndrome
Microcephaly, Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Hemiatrophy, Stippled calcification in carpal bones, Tarsal stippling, Postaxial poly... OMIM:302960
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Broad hallux, Branchial cyst, Clinodactyly, Patent foramen ovale, Atrial septal defe... OMIM:620186
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Tetralogy of Fallot, Peri... ORPHA:306542
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... OMIM:613406
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Microphthalmia OMIM:619053
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Congenital Fibrinogen Deficiency
Clubbing of fingers, Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Polymicrogyria, Unilateral microphthalmos, Mitral valve prolapse, Microcephaly, Adducted thumb, M... OMIM:618874
Histiocytoid Cardiomyopathy
Cerebellar malformation, Congenital aphakia, Agenesis of corpus callosum, Ventricular septal defe... ORPHA:137675
3Q29 Microdeletion Syndrome
Macrocephaly, Microcephaly, Subvalvular aortic stenosis, Microphthalmia, Clinodactyly of the 5th ... ORPHA:65286
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Talipes equinovarus, Short neck, Atrial septal defect, Torticollis, ... OMIM:609945
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Bor Syndrome
Branchial cyst ORPHA:107
Refsum Disease
Hammertoe, Short metacarpal, Cardiomyopathy, Microphthalmia ORPHA:773
Cohen Syndrome
Finger syndactyly, Sandal gap, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Ara... ORPHA:193
Fanconi Anemia, Complementation Group L
Webbed neck, Absent thumb, Microphthalmia, Cerebellar hypoplasia, Short neck, Hydrocephalus, Abse... OMIM:614083
Oculo-Palato-Cerebral Syndrome
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Fronta... ORPHA:2714
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Microcephaly, Talipes equinovarus, Ulnar deviat... OMIM:272950
Multiple Benign Circumferential Skin Creases On Limbs
Microcephaly, Umbilical hernia, Microphthalmia ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Cerebellar dysplasia, Polymicro... OMIM:253280
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Microcephaly, Absent radius, Microphthalmia... OMIM:600901
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Hypoplasia of the iris, ... ORPHA:2092
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fryns Syndrome
Short distal phalanx of finger, Broad neck, Hypoplasia of the optic tract, Prominent fingertip pa... OMIM:229850
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Delayed eruption of teeth, Macrocephaly, Tibial bowing, Flexion c... OMIM:601812
Familial Exudative Vitreoretinopathy
Microcephaly, Microphthalmia ORPHA:891
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Microcephaly, 2-3 finger syndactyly, Hypoplasia of the radius, Atrial ... OMIM:603467
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormal heart morphology, Microcephaly, Absent radius, Microphthalmia... OMIM:227650
Otodental Syndrome
Lens coloboma, Delayed eruption of teeth, Microphthalmia ORPHA:2791
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Aicardi Syndrome
Small hand, Polymicrogyria, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, P... ORPHA:50
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Short neck... ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Persistence of primary teeth, Brachyd... OMIM:618727
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Atrial septal defect, Microphth... ORPHA:84
Trichothiodystrophy 3, Photosensitive
Natal tooth, Microphthalmia OMIM:616395
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... OMIM:616975
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... OMIM:157170
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Delayed eruption of teeth, 2-4 toe cutaneou... OMIM:257850
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Short neck, Microphthalmia, Camptodactyly, Short metacarpal, S... OMIM:614230
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Optic disc hypoplasia, Apla... ORPHA:959
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Metaphyseal spurs, Flared metaphysis, Bowing of the long bones, Femoral spur, Coxa va... ORPHA:85167
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Bilateral microphthalmos, Umbilical hernia... ORPHA:33364
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Femoral bowing, Short neck, Large hands, Mac... ORPHA:2563
Hallermann-Streiff Syndrome
Small hand, Natal tooth, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Clinodactyly of the... ORPHA:2108
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Incontinentia Pigmenti
Cerebral cortical atrophy, Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Cam... ORPHA:464
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular ca... OMIM:617925
Oculodentodigital Dysplasia
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... OMIM:164200
Monosomy 9P
Webbed neck, Abnormality of the tarsal bones, Agenesis of corpus callosum, Low posterior hairline... ORPHA:261112
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Rodrigues Blindness
Microphthalmia OMIM:268320
Myhre Syndrome
Aortic valve stenosis, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Macroce... OMIM:139210
Lymphedema-Distichiasis Syndrome
Webbed neck, Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Cystic hygroma OMIM:153400
Atelis Syndrome 2
Clinodactyly, Microcephaly, Microphthalmia, Supravalvar pulmonary stenosis, Pulmonic stenosis OMIM:620185
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Ventricular septal defect, Microcephaly, Absent radius, Microphthalmia... OMIM:227645
Hallermann-Streiff Syndrome
Natal tooth, Microcephaly, Spina bifida, Metaphyseal widening, Microphthalmia OMIM:234100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... OMIM:608940
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Microcephaly, Microphthalmia, Tapered finger ORPHA:1236
Cockayne Syndrome B
Cerebral atrophy, Hypoplasia of the iris, Basal ganglia calcification, Subcortical white matter c... OMIM:133540
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Short distal phalanx of finger, Umbilical hernia, Abnormal heart mo... OMIM:612289
Nance-Horan Syndrome
Short phalanx of finger, Broad finger, Microphthalmia OMIM:302350
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic valve... ORPHA:567
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Microphthalmia OMIM:278730
Trichothiodystrophy 1, Photosensitive
Microcephaly, Microphthalmia OMIM:601675
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
X-Linked Dominant Chondrodysplasia Punctata
Talipes equinovarus, Microphthalmia ORPHA:35173
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Microcephaly, Brachydactyly, Microphthalmia, Aplasi... ORPHA:364577
Skin Creases, Congenital Symmetric Circumferential, 2
Broad neck, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Short neck, Long... OMIM:616734
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... OMIM:609049
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Dubowitz Syndrome
Delayed eruption of teeth, Hypoplasia of the iris, Microcephaly, Microphthalmia, Clinodactyly of ... OMIM:223370
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Ventricular septal defect, Microcepha... OMIM:608670
Papillorenal Syndrome
Chiari type I malformation, Microphthalmia OMIM:120330
Microphthalmia, Syndromic 1
Webbed neck, Clinodactyly, Prominent fingertip pads, Radial deviation of finger, Anophthalmia, Mi... OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Lateral ventricle dilatation, Secondary microcephaly, Long hallux, Enlarge... ORPHA:261537
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcephaly, Microphthalmia OMIM:110100
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Cardiomyopathy, Basal ganglia calcification, Subcortica... ORPHA:90324
Ohdo Syndrome, X-Linked
Clinodactyly, Short thumb, Overlapping toe, Long thumb, Ulnar deviation of the hand, Microphthalmia OMIM:300895
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Basal ganglia calcification, Abnormality of the medullary cavity of the long bone... OMIM:127000
Incontinentia Pigmenti
Hypoplasia of the fovea, Microcephaly, Delayed eruption of teeth, Microphthalmia OMIM:308300
Osteoporosis-Pseudoglioma Syndrome
Tibial bowing, Ventricular septal defect, Phthisis bulbi, Microcephaly, Metaphyseal widening, Mic... OMIM:259770
Bartsocas-Papas Syndrome 1
Absent thumb, Short thumb, Oligodactyly, Ulnar bowing, Patent foramen ovale, Talipes equinovarus,... OMIM:263650
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Chiari malformation, Broad thumb, Pr... ORPHA:857
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Patent foramen ovale, Microcephaly, Atrial septal defect, Microphthalmia, Tapered finger OMIM:620005
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Agenes...