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Gene: Rab18 MGI:102790

Gene Summary

Name:

RAB18, member RAS oncogene family

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
limb grasping	Rab18^{Gt(EUCE0233a03)Hmgu}	HET	Early adult	3.55×10^-07
decreased circulating creatinine level	Rab18^{Gt(EUCE0233a03)Hmgu}	HET	Early adult	3.36×10^-05
impaired pupillary reflex	Rab18^{Gt(EUCE0233a03)Hmgu}	HET	Early adult	7.94×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rab18 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.

Human diseases associated with Rab18 (2 diseases)
Human diseases predicted to be associated with Rab18 (779 diseases)

The table below shows human diseases associated to Rab18 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Warburg Micro Syndrome 3		Lower limb spasticity, Small scrotum, Microcephaly, Inability to walk, Hypoplastic labia minora, ...	OMIM:614222
Micro Syndrome		Abnormality of retinal pigmentation, Hypoplasia of penis, Microcephaly, Cryptorchidism, Hypoplast...	ORPHA:2510

The table below shows human diseases predicted to be associated to Rab18 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:302800
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, I...	OMIM:614436
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Dysplastic corpus callosum, Tongue f...	OMIM:618276
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Tremor, Decreased number of large per...	OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia...	OMIM:619389
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypergonadotropic hypo...	OMIM:604168
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop...	OMIM:613162
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Microcephaly, Tremor, Microphthalmia, Spasticity	OMIM:278780
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cortical dysplasia, Dysgen...	OMIM:615771
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment	OMIM:616155
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Microcephaly, Corpus callosum atrophy,...	OMIM:619310
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Impaire...	ORPHA:88628
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Tetraplegia, Cerebral atrophy, Hypertonia, Microphthalmia, Failure t...	OMIM:274270
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spa...	ORPHA:599373
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,...	ORPHA:401820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Abnormal cerebral white matter morphology, Axonal degenerati...	OMIM:618138
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene...	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Microcephaly, Babinski sign, Optic atrophy, Li...	OMIM:614322
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Mitochondrial Dna Depletion Syndrome 18	Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive	OMIM:618811
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Abnormal pyramidal sign, Dysmetria, Paresthesia, Abnormali...	ORPHA:48431
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Opti...	OMIM:617954
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer...	OMIM:614877
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,...	OMIM:620221
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener...	OMIM:610951
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Los...	ORPHA:225154
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, Cerebellar atrophy, A...	OMIM:617225
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Striatonigral Degeneration, Infantile	Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:271930
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Retinal dystrophy, Ataxia, Microcephaly, Optic atrophy, Athetosis, Abnormal c...	OMIM:614559
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia,...	OMIM:616811
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Progressive leukoencephalopathy, Premature ovarian insufficiency, Ataxia, Bab...	OMIM:615889
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Abnormal cerebral white matter ...	ORPHA:320391
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Babinski sign,...	ORPHA:453521
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Thi...	OMIM:613647
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati...	OMIM:604360
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani...	OMIM:620011
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ...	OMIM:619425
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology	ORPHA:101082
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti...	OMIM:210000
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s...	OMIM:252650
De Sanctis-Cacchione Syndrome	Ataxia, Microcephaly, Bilateral cryptorchidism, Basal ganglia calcification, Axonal degeneration,...	OMIM:278800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Microcephaly, Partial agenesis of the cor...	OMIM:616171
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py...	OMIM:614833
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign...	ORPHA:98762
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Dyst...	OMIM:618238
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia, Microcephaly	OMIM:616335
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Retrobul...	OMIM:619737
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen...	OMIM:615643
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n...	ORPHA:478029
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, G...	ORPHA:248111
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Hand tremor, Spastic dysarthria, Agenesis of corpus callosum, Cerebral cor...	ORPHA:401830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A...	OMIM:604320
Warburg Micro Syndrome 1	External genital hypoplasia, Microcephaly, Cryptorchidism, Perisylvian polymicrogyria, Optic atro...	OMIM:600118
Retinitis Pigmentosa 56	Optic disc pallor, Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Lissencephaly, X-Linked, 1	Ataxia, Spasticity, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I...	OMIM:615491
Gombo Syndrome	Microphthalmia, Microcephaly, Delayed puberty	OMIM:233270
Myopathy, Tubular Aggregate, 1	Joint contracture, Abnormal pupil morphology, Flexion contracture	OMIM:160565
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ...	OMIM:615651
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Optic atrophy	OMIM:620086
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum, Ataxia	ORPHA:85334
Alexander Disease	Microcoria, Death in adolescence, Death in infancy, Death in childhood	OMIM:203450
Adrenomyeloneuropathy	Peripheral axonal degeneration, Axonal degeneration, Adrenocortical abnormality, Cerebral dysmyel...	ORPHA:139399
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Poor gross motor co...	OMIM:245349
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy	OMIM:613909
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
3-Methylglutaconic Aciduria, Type I	Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Leukoencephalopathy, Athetosis, Abn...	OMIM:250950
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Dec...	ORPHA:101097
Cofs Syndrome	Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Optic atrophy, Hyperto...	ORPHA:1466
Spinocerebellar Ataxia Type 32	Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy	ORPHA:276183
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia	OMIM:617744
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration	OMIM:162100
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig...	ORPHA:98759
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Microcephaly, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystoni...	OMIM:308350
Proximal Myopathy With Extrapyramidal Signs	Abnormal basal ganglia MRI signal intensity, Resting tremor, Peripheral axonal neuropathy, Ataxia...	ORPHA:401768
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Optic atrophy, Lissencephaly, Microphthalmia, Agenesis of co...	ORPHA:1528
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm...	OMIM:617145
Cerebrotendinous Xanthomatosis	Abnormal globus pallidus morphology, Axonal degeneration, Abnormal pyramidal sign, Hypothyroidism...	ORPHA:909
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o...	ORPHA:171680
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Hyperinten...	ORPHA:101
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebella...	ORPHA:504476
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Mepan Syndrome	Axial dystonia, Limb dystonia, Cerebellar atrophy, Ataxia, Hemidystonia, Chorea, Optic atrophy, C...	ORPHA:508093
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici...	OMIM:616881
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas...	OMIM:615157
Cataract 11, Multiple Types	Microphthalmia, Chorea, Hypertonia	OMIM:610623
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Titubation, Gait ataxia, Intention tr...	ORPHA:397946
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Microphthalmia, Agenesis of corp...	OMIM:218670
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Chorioretinal atrophy, Cortical cataract	OMIM:616468
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma	OMIM:251505
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Foxg1 Syndrome	Optic disc hypoplasia, Pachygyria, Inability to walk, Choreoathetosis, Hyperkinetic movements, My...	ORPHA:561854
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Small scrotum, Cryptorchidism, Ina...	OMIM:615663
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis...	ORPHA:263479
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Cerebral Creatine Deficiency Syndrome 2	Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia, Primary amenorrhea	OMIM:616947
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Microcephaly, Inability to walk, Hypoplasia of the corpus callos...	OMIM:613155
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Lissencephaly 8	Appendicular spasticity, Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Micropht...	OMIM:617255
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of toe, Nuclear cataract, Camptodactyly of finger	ORPHA:2848
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism, Progressive spasticity, Microcephaly	ORPHA:2528
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Agenesis of corpus callosum, Microcephaly	OMIM:616570
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cryptorchidism, Secondary microcephaly, Microphthalmia, Spasticity	OMIM:613730
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
2Q24 Microdeletion Syndrome	Coloboma, Cataract, Camptodactyly of finger, Abnormality iris morphology	ORPHA:1617
Mevalonic Aciduria	Optic disc pallor, Nuclear cataract, Cataract	OMIM:610377
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia, Failure to thrive, Agene...	OMIM:250620
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of ...	OMIM:619653
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Cavitation of the basal ganglia, Tremor, Rigidity, Chorea, ...	OMIM:606159
Norrie Disease	Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallo...	OMIM:310600
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentar...	OMIM:222300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthal...	ORPHA:363741
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Rhizomelic Chondrodysplasia Punctata, Type 2	Inguinal hernia, Cataract, Optic nerve hypoplasia, Flexion contracture, Zonular cataract	OMIM:222765
Hec Syndrome	Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract	ORPHA:2119
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Large for gestational age	ORPHA:2432
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Pierpont Syndrome	Microcephaly, Cryptorchidism, Abnormal peripheral nervous system morphology, Hypertonia, Decrease...	OMIM:602342
Mmep Syndrome	Microphthalmia, Microcephaly, Cryptorchidism	ORPHA:3434
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg...	ORPHA:247234
Warburg Micro Syndrome 3	Lower limb spasticity, Small scrotum, Microcephaly, Inability to walk, Hypoplastic labia minora, ...	OMIM:614222
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Cataract, Anisocoria	OMIM:619649
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski sign, Chore...	ORPHA:2524
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
3-Methylglutaconic Aciduria, Type Viib	Cataract, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Dystonia, Zonular cataract	OMIM:616271
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Pa...	OMIM:157640
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro...	OMIM:535000
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Atypical scarring of skin, Nuclear cataract, Camptodactyly, Ar...	OMIM:601701
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Pierpont Syndrome	Small for gestational age, Abnormal cortical gyration, Atrophy/Degeneration affecting the central...	ORPHA:487825
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Microcephaly, Decreased nerve conduction velocity, Basal ganglia calc...	OMIM:610651
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a...	OMIM:618249
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly	OMIM:610023
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of c...	OMIM:300887
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis, Subcutaneous lipoma, S...	ORPHA:2969
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Microcephaly, Cryptorchi...	OMIM:214150
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gai...	OMIM:610217
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corp...	OMIM:164180
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma	OMIM:611638
Joubert Syndrome 22	Temporal cortical atrophy, Retinal dysplasia, Hypoplasia of the corpus callosum, Oculomotor aprax...	OMIM:615665
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Retinal detachment, Isosexual precocious puberty, Abnormal vitreous humor morpholo...	ORPHA:2788
Moebius Syndrome	Hypogonadotropic hypogonadism, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis...	OMIM:157900
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of...	OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Leukoencephalopathy, Microphthalmia, Polymicrogyria, ...	OMIM:615181
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula...	ORPHA:481
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Co...	OMIM:619955
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia, Type II lissencephaly	OMIM:614830
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Warburg Micro Syndrome 2	Small scrotum, Microcephaly, Cryptorchidism, Optic atrophy, Spastic diplegia, Hypoplastic labia m...	OMIM:614225
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Nuclear cataract, Cataract	OMIM:608885
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Enamel hypopl...	OMIM:618727
Retinitis Pigmentosa 86	Optic disc pallor, Cortical cataract	OMIM:618613
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Fasciculations	OMIM:313200
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Blepharospasm, Hypoplastic iris st...	ORPHA:233
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Ataxia, Inability to walk, Dysplastic corpus callosum, Primary microcephal...	ORPHA:357058
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Facial-lingual fasciculations, Microcephaly...	OMIM:617281
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Microcephaly, Cryptorchidism, Hypoplast...	ORPHA:2510
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Simplified gyral pattern, Abnormal cerebral white matter morphology, Lissence...	OMIM:613153
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cryptorchidism, Dysplastic corpus callosum, Hypospadias	OMIM:620135
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, Allodynia, Peripheral demyel...	ORPHA:221091
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Decreased body weight, Short co...	ORPHA:255138
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Microcephaly, Optic atrophy, Limb ataxia, Choreoathetosis, Difficul...	OMIM:617595
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Primary microcephaly, Partial agenesis of the corpus callosum, Vocal cord paralysis, Optic atroph...	ORPHA:500144
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cerebral calcification, Failure to thrive in infancy, Microc...	ORPHA:858
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opt...	OMIM:620352
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Optic nerve hypoplasia, Clonus, Microcephaly, Diffuse white matter abnormalit...	ORPHA:370959
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape	ORPHA:45358
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Opti...	OMIM:253800
Adams-Oliver Syndrome 2	Microcephaly, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatation, Microphthalmia, Poly...	OMIM:614219
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Joubert Syndrome 37	Cryptorchidism, Obesity, Hypoplasia of the corpus callosum, Oculomotor apraxia, Microphthalmia, M...	OMIM:619185
C3 Glomerulopathy	Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin...	ORPHA:329918
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Microphthalmia, Decr...	ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Spasticity, Failure to thrive, Polymicrogyria	OMIM:612379
Myoclonic-Astatic Epilepsy	Ataxia, Microcephaly, Tremor, Unsteady gait, Abnormal pyramidal sign, Microphthalmia	ORPHA:1942
Kapur-Toriello Syndrome	Hypoplasia of penis, Pachygyria, Dysplastic corpus callosum, Hypoplastic labia majora, Retinal co...	ORPHA:2328
Septooptic Dysplasia	Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ...	OMIM:182230
Fanconi Anemia, Complementation Group S	Ataxia, Microcephaly, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to thrive	OMIM:617883
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma, Microcephaly	OMIM:300915
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Joint contracture of the hand, An...	ORPHA:90658
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Coach Syndrome 2	Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:231550
Facial Spasm	Anisocoria	OMIM:134300
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cataract, Buphthalmos, Congenital contracture, Persistent pupillary membrane, P...	OMIM:613150
Vitreoretinochoroidopathy	Microcornea, Abnormality of chorioretinal pigmentation, Pulverulent cataract, Developmental cataract	OMIM:193220
Alagille Syndrome	Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Microcephaly, Cryptorchidism, Chorioretinal coloboma, Microphtha...	ORPHA:139471
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, White mater abnormalities in the posterior per...	OMIM:609242
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Coloboma, Developmental cataract	ORPHA:324416
Intestinal Botulism	Death in infancy, Mydriasis	ORPHA:178481
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Broad-based gait, Failure to thrive in infancy	OMIM:618805
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Hypoplasia of th...	OMIM:614105
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Baraitser-Winter Syndrome 1	Microcephaly, Pachygyria, Cryptorchidism, Lissencephaly, Chorioretinal coloboma, Microphthalmia, ...	OMIM:243310
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P...	OMIM:234200
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ataxia, Small for gestational age, Microcephaly, Optic atrophy, Spastic tetra...	OMIM:251300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Cerebral palsy, Microcephaly, Dysplastic corpus callosum, Simplified gyr...	OMIM:620001
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Microcephaly, Chorioretinal lacunae, Optic atrophy, ...	OMIM:152950
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Spasticity, Thin corpus callosum, Microcephaly	OMIM:619694
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent septum pell...	OMIM:609053
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Abruzzo-Erickson Syndrome	Cryptorchidism, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, A...	OMIM:616900
Schwannomatosis, Vestibular	Unilateral vestibular schwannoma, Cortical cataract, Juvenile posterior subcapsular lenticular op...	OMIM:101000
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia, Microcephaly	ORPHA:3469
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Abnormally large globe, Microcephaly, Progressive microcephaly, Lissenceph...	OMIM:615249
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Appendicular spasticity, Inability to walk, Cryptorchidism, Cerebral atrophy, Hypoplasia of the c...	OMIM:618494
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system...	OMIM:609049
Microphthalmia, Syndromic 8	Microphthalmia, Microcephaly, Cryptorchidism	OMIM:601349
Joubert Syndrome 2	Retinal dystrophy, Ataxia, Optic disc coloboma, Chorioretinal coloboma, Hypoplastic male external...	OMIM:608091
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchid...	OMIM:610125
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract, Flexion contracture of finger	ORPHA:1010
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum	OMIM:614583
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1777
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Dysplastic corpus callosum, Spasticity, Hydrocele testis, Micropenis	OMIM:618810
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Optic atrophy, Anisocoria, Head tremor, Facial paralysis	ORPHA:99949
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Coats Disease	Leukocoria	OMIM:300216
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Retinal arteriolar ...	ORPHA:191
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Joubert Syndrome 14	Ataxia, Morning glory anomaly, Optic atrophy, Hypoplasia of the corpus callosum, Microphthalmia	OMIM:614424
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Agenesis of corpus callosum	ORPHA:93267
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Hypoplasia of the corpus call...	ORPHA:494344
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Seckel Syndrome 2	Small for gestational age, Microphthalmia, Hypospadias, Microcephaly	OMIM:606744
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Complex Regional Pain Syndrome	Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,...	ORPHA:83452
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio...	OMIM:206900
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Microcephaly, Spastic diplegia, Aplasia/Hypoplasia of the ir...	ORPHA:290
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Knobloch Syndrome 1	Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transill...	OMIM:267750
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Cavum septum pellucidum, Polymicrogyria, Megalencephaly	OMIM:602501
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Decreased fertility, Microp...	OMIM:234050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hypertonia, Microphallus, ...	ORPHA:468631
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Temtamy Syndrome	Thick corpus callosum, Hypertonia, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus cal...	OMIM:218340
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Abnormal retinal vascular morphology, Cryptorc...	ORPHA:3378
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Small for gestational age, Microcephaly, Microphthalmia, Micropenis	OMIM:610756
Serotonin Syndrome	Abnormality of the autonomic nervous system, Tremor, Mydriasis	ORPHA:43116
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Cryptorchidism, Anencephaly, Abnormal fallopian tube morp...	ORPHA:2189
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris...	OMIM:175780
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Microphthalmia, Agenesis of corpus callosum...	ORPHA:3301
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum	ORPHA:1553
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Small for gestation...	OMIM:133540
Myotonic Dystrophy 1	Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Mydriasis, Anisocoria, Abnormality of th...	ORPHA:79138
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:195
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Refsum Disease	Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Mic...	ORPHA:773
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Hypertonia, Microcephaly	OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Agyria, Optic nerve hypoplasia, Microcephaly, Cryptorchidism...	OMIM:236670
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesia, Decreased body weight, Al...	ORPHA:51890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Agyria, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Part...	OMIM:614643
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia, Agenesis of corpus callosum	ORPHA:228390
Trichinellosis	Facial palsy, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival hyperemia	ORPHA:863
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Opisthotonus, Microphthalmia, Micropenis, Decreased testicular size	ORPHA:335
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia, Microcephaly	OMIM:613885
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Craniolenticulosutural Dysplasia	Cryptorchidism, Punctate cataract, Posterior Y-sutural cataract, Optic atrophy	OMIM:607812
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Heart And Brain Malformation Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, Microphthalmia,...	OMIM:616920
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Inguinal hernia, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal d...	ORPHA:534
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Microcephaly, Choreoathetosis, Microphthalmia, Spasticity	OMIM:278730
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon, Cachexia	ORPHA:1438
Frontonasal Dysplasia 1	Microphthalmia, Agenesis of corpus callosum, Pericallosal lipoma	OMIM:136760
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia, Agenesis of corpu...	ORPHA:77298
Rothmund-Thomson Syndrome, Type 2	Microcornea, Cryptorchidism, Cataract, Zonular cataract	OMIM:268400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Abnormal retinal morphology, Microcephaly, Bilateral microphthalmos...	OMIM:610758
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Posterior...	ORPHA:637
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Microcephaly, Cerebral atrophy, Cavum septum pellucidum, Hypoplasia of the corpus ca...	OMIM:616449
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2117
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Lesch-Nyhan Syndrome	Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity...	OMIM:300322
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyr...	OMIM:619179
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Precocious puberty, Hemipl...	ORPHA:50
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Lens coloboma, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus...	OMIM:618914
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology, Allodynia, Hyperesthesia	ORPHA:137596
Nephronophthisis 11	Anisocoria	OMIM:613550
Superficial Siderosis	Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve	ORPHA:247245
Wound Botulism	Mydriasis	ORPHA:178475
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Hypospadias, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agen...	OMIM:619103
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p...	ORPHA:98977
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Secondary microcephaly	OMIM:618652
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Microcephaly, Inability to walk, Cerebral atrophy, Agenesis of corpus callosum, Late...	ORPHA:464738
Sandestig-Stefanova Syndrome	Microphthalmia, Small for gestational age, Hypoplasia of the corpus callosum, Primary microcephaly	OMIM:618804
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Spasticity, Failure to thrive, Secondary microcephaly	OMIM:619423
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Microphthalmia, Lenz Type	Hypospadias, Microcephaly, Cryptorchidism, Optic disc coloboma, Aplasia/Hypoplasia of the corpus ...	ORPHA:568
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Scalp-Ear-Nipple Syndrome	Cataract, Developmental cataract, Anisocoria, Multiple lipomas, Iris coloboma	OMIM:181270
Monosomy 18P	Microphthalmia, Generalized dystonia, Hypothyroidism, Microcephaly	ORPHA:1598
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Inhalational Botulism	Mydriasis	ORPHA:254504
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr...	ORPHA:2470
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia, Failure to thrive, Hypertonia	OMIM:616395
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cerebral whi...	ORPHA:90324
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Ataxia, Cryptorchidism, Bilateral microphthalmos, Spastic paraparesis	ORPHA:369891
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Hypoplasia of the...	OMIM:613001
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Microcephaly, Cryptorchidism, Abnormality of the scrotum, Microphthal...	ORPHA:2505
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inability to walk, Retinal coloboma, Gait disturbance, Difficulty walking, Microphthalmia	OMIM:618571
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Stillbirth, Mydriasis	OMIM:259720
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Jacobsen Syndrome	Hypospadias, Microcephaly, Cryptorchidism, Optic atrophy, Spasticity, Clitoral hypoplasia, Macula...	OMIM:147791
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular ...	ORPHA:544488
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Micro...	ORPHA:193
Botulism	Mydriasis	ORPHA:1267
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Sutural cataract	OMIM:201470
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Retinal dystrophy, Buphthalmos, Hypoplasia of the corpus callosum, Microp...	OMIM:616538
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Small for gestational age, Basal ganglia calcification, Retinal ...	OMIM:127000
Cerebrofacioarticular Syndrome	Ataxia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Absence of pubertal development, H...	ORPHA:314679
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Coloboma	OMIM:617306
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Failure to thrive, Microcephaly, Simplified gyral pattern, Cerebral atrophy, ...	OMIM:617729
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Failure to thrive in infancy, Microcephaly,...	ORPHA:2162
Foodborne Botulism	Mydriasis	ORPHA:228371
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, B...	ORPHA:33364
Alternating Hemiplegia Of Childhood	Tremor, Choreoathetosis, Abnormal autonomic nervous system physiology, Dystonia, Mydriasis	ORPHA:2131
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Marden-Walker Syndrome	Hypospadias, Microcephaly, Cryptorchidism, Microphthalmia, Micropenis, Agenesis of corpus callosum	OMIM:248700
Hallermann-Streiff Syndrome	Small for gestational age, Microcephaly, Cryptorchidism, Optic disc coloboma, Choreoathetosis, Ch...	OMIM:234100
3P25.3 Microdeletion Syndrome	Microphthalmia, Cerebral white matter atrophy, Ataxia	ORPHA:435638
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus, Obesity	ORPHA:3191
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Ectopia pupillae, Contractur...	OMIM:618223
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Cryptorchidism, Inguinal hernia	OMIM:618653
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Small for gestational age, Microcephaly, Cryptorchidism, Penoscrotal ...	OMIM:619148
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma	ORPHA:231736
Braddock-Carey Syndrome 2	Microphthalmia, Microcephaly	OMIM:619981
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Kapur-Toriello Syndrome	Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis, Pachygyri...	OMIM:244300
Senior-Loken Syndrome 1	Retinal dystrophy, Elevated circulating creatinine concentration	OMIM:266900
3Q29 Microdeletion Syndrome	Hypospadias, Microcephaly, Gait disturbance, Microphthalmia, Failure to thrive	ORPHA:65286
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia	ORPHA:261272
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Increased reti...	OMIM:606519
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Martsolf Syndrome 1	Hypogonadotropic hypogonadism, Clonus, Microcephaly, Cryptorchidism, Spastic diplegia, Periventri...	OMIM:212720
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Cataract 49	Posterior cortical cataract	OMIM:619593
Arachnoid Cyst	Cranial nerve compression, Facial palsy, Mydriasis	ORPHA:2356
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Retinoblastoma	Leukocoria, Uveitis, Cellulitis, Hypopyon, Heterochromia iridis	ORPHA:790
Microphthalmia With Limb Anomalies	Microphthalmia, Failure to thrive, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Lateral ventricle dilatation, Microphthalmia, Failure to thrive, Agen...	OMIM:300952
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Hypospadias, Microcephaly, Unilateral microphthalmos, Macroorchidism, Polymicr...	OMIM:618874
Adams-Oliver Syndrome	Porencephalic cyst, Hemiparesis, Hypertonia, Microphthalmia, Failure to thrive, Periventricular l...	ORPHA:974
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Coloboma, Multiple lipomas, Conjunctival hyperemia	ORPHA:2399
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Hypopigmentation of the fundus	ORPHA:163649
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Gait disturbance, Supernumerary nipple, Microcephaly	OMIM:620098
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia, Agenesis o...	ORPHA:2059
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Supernumerary nipple, Microcephaly, Retinal vascular...	OMIM:308300
Meckel Syndrome	Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Abnormal chorioretinal morphology, Micro...	ORPHA:564
Aicardi Syndrome	Retinal detachment, Microcephaly, Precocious puberty, Chorioretinal lacunae, Partial agenesis of ...	OMIM:304050
Meckel Syndrome, Type 4	Microcephaly, Anencephaly, Bile duct proliferation, Hypoplasia of the corpus callosum, Microphtha...	OMIM:611134
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Microcephaly, Elevated circulating thyroid-stimulating h...	OMIM:620185
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Tremor, Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum...	OMIM:300967
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
Histiocytoid Cardiomyopathy	Optic atrophy, Polycystic ovaries, Hemiplegia, Microphthalmia, Failure to thrive, Agenesis of cor...	ORPHA:137675
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Microcephaly, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis, ...	OMIM:264480
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Absent septum pellucidum, Ovotestis, Microcephaly, Hypoplasia of the uterus, Pigment...	OMIM:309801
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis, Failure to thrive	OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Type II lissencephaly, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the co...	OMIM:253280
Stromme Syndrome	Optic nerve hypoplasia, Microcephaly, Retinal vascular tortuosity, Microphthalmia, Agenesis of co...	OMIM:243605
Stevenson-Carey Syndrome	Microphthalmia, Hypoplasia of the corpus callosum	OMIM:611961
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchi...	ORPHA:466791
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Failure to thrive, Anophthalmia, ...	ORPHA:2556
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Supernumerary nipple, Retinal vascular pro...	ORPHA:464
Trisomy 18	Abnormality of retinal pigmentation, Cachexia, Microcephaly, Cryptorchidism, Anencephaly, Aplasia...	ORPHA:3380
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Microcephaly, Microphthalmia...	OMIM:147250
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the corpus callosum, Microphthalmia, Microp...	OMIM:614230
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Microcephaly, Small scrotum, Cryptorchidism	ORPHA:2728
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Lens coloboma, Agenesis of corpus c...	ORPHA:42775
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect...	ORPHA:465508
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal col...	OMIM:235730
Meckel Syndrome, Type 5	Anencephaly, Microphthalmia, Bile duct proliferation	OMIM:611561
1Q21.1 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Microphthalmia, Failure to thrive, Agenesis of corpus callosum	ORPHA:250989
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma, Cryptorchidism	OMIM:619135
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Hypoplastic nipples, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar ...	OMIM:156610
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchidism, Microphallus...	OMIM:603467
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Microcephaly, Supernumerary nipple, Cryptorchidism	OMIM:612530
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Oculodentodigital Dysplasia	Ataxia, Microcephaly, Paraparesis, Basal ganglia calcification, Abnormal cerebral white matter mo...	OMIM:164200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Tremor, Nuclear pulverulent cataract, Camptodactyly	OMIM:612474
Fanconi Anemia, Complementation Group A	Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Microcephaly, Crypto...	OMIM:227650
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism, Myoclonus, Microcephaly	ORPHA:1352
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
2Q31.1 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Optic disc coloboma, Microphthalmia, Abnormality of the hypothalamu...	ORPHA:251014
Pelvis-Shoulder Dysplasia	Waddling gait, Hydranencephaly, Bilateral microphthalmos, Retinal coloboma, Ambiguous genitalia	ORPHA:2839
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Spastic tetraparesis, Microcephaly, Cryptorchidism, Optic atrophy, Hypoplastic anter...	OMIM:616975
Fanconi Anemia, Complementation Group E	Small for gestational age, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Micropht...	OMIM:600901
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Absent septum pellucidum, Cryptorchidism, Dysplastic corpus callosum, ...	OMIM:618820
Frontofacionasal Dysplasia	Microphthalmia, Hypoplasia of the corpus callosum	ORPHA:1791
Familial Multiple Lipomatosis	Chorioretinitis, Lipodystrophy, Coloboma, Increased adipose tissue	ORPHA:199276
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Microphthalmia, Macular coloboma	OMIM:615145
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Aganglionic megacolon, Cryptorchidism, Abnormal pupil morphology, Flexion...	ORPHA:261552
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Mydriasis	OMIM:613834
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Hypoplasia of the corpus callosum, Microphth...	ORPHA:401973
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Cryptorchidism, Annular ...	OMIM:227646
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Involuntary movements, Megalencephaly, Cryptorchidism, Inability to walk, Unsteady g...	ORPHA:3063
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism	ORPHA:284160
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Cryptorchidism, Dysplastic corpus callo...	OMIM:151050
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Spasticity, Hypothyr...	OMIM:618569
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Endometriosis, Dysplastic corpus callosum, Micropenis	ORPHA:363444
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Microcephaly	OMIM:618165
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Facial palsy, Optic nerve hypoplasia, Microcephaly, Abnormal optic disc morphology, ...	ORPHA:508498
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo...	ORPHA:273
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Microphthalmia, Hypogonadism, Microcephaly	OMIM:601675
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Meckel Syndrome, Type 2	Anencephaly, Microphthalmia, Bile duct proliferation	OMIM:603194
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:613451
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Supernumerary nipple, Cryptorchidism, Chorioretinal coloboma, Hypoplasi...	OMIM:613884
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Basal ganglia calcification, Bilateral microphthalmos, Retinal calcification, Congen...	ORPHA:93325
Mosaic Trisomy 1	Lateral ventricle dilatation, Microphthalmia, Micropenis, Penile hypospadias, Agenesis of corpus ...	ORPHA:1692
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Wolf-Hirschhorn Syndrome	Cryptorchidism, Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Dyskeratosis Congenita, Autosomal Recessive 2	Cerebral calcification, Testicular atrophy	OMIM:613987
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis, Decreased body weight	OMIM:300895
Frontorhiny	Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Hypopituitarism, ...	ORPHA:391474
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration	ORPHA:2260
Witteveen-Kolk Syndrome	Inguinal hernia, Cataract, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Contractur...	OMIM:613406
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Obesity, Microcephaly	ORPHA:251038
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Retinoblastoma	Leukocoria	OMIM:180200
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Aplasia/Hypop...	ORPHA:2166
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Failure to thrive, Delayed peripheral myelination, Microcephaly	ORPHA:364577
Mosaic Trisomy 9	Hypoplasia of penis, Microcephaly, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian ...	ORPHA:99776
Fanconi Anemia, Complementation Group C	Small for gestational age, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Micropht...	OMIM:227645
Cocaine Intoxication	Tremor, Mydriasis	ORPHA:90068
Zttk Syndrome	Absent gallbladder, Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter mor...	OMIM:617140
Knobloch Syndrome 2	Enamel hypoplasia, Anterior cortical cataract	OMIM:618458
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Microphthalmia, Polymicrogyria, Agenesis of corpus callosum	OMIM:601707
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Abnormal optic nerve morphology, Abnormal fallopian tube morphology...	ORPHA:3412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Oculofaciocardiodental Syndrome	Retinal detachment, Microphthalmia	ORPHA:2712
Fetal Alcohol Syndrome	Microphthalmia, Microcephaly	ORPHA:1915
Fanconi Anemia	Hypospadias, Aganglionic megacolon, Abnormal preputium morphology, Microcephaly, Cryptorchidism, ...	ORPHA:84
Microcephaly-Micromelia Syndrome	Microphthalmia, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus callosum	OMIM:251230
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Perineal fistula, Rectovagina...	ORPHA:2538
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Blepharospasm, Abnormality of the adrenal gla...	ORPHA:861
Oculodentodigital Dysplasia	Cataract, Abnormal dental enamel morphology, Camptodactyly of finger, Optic atrophy, Abnormality ...	ORPHA:2710
Acro-Renal-Ocular Syndrome	Cataract, Aganglionic megacolon, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Bilateral microphthalmos, Obesity, C...	ORPHA:2563
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus callo...	ORPHA:500150
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Large for gestation...	OMIM:229850
Duane-Radial Ray Syndrome	Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma, Microphthalmia	OMIM:607323
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Microcephaly, Cryptorch...	ORPHA:138
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v...	OMIM:300166
Microphthalmia With Limb Anomalies	Cryptorchidism, Optic atrophy, Microphthalmia, Failure to thrive, True anophthalmia	ORPHA:1106
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Fanconi Anemia, Complementation Group R	Microphthalmia, Microcephaly	OMIM:617244
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Calcification of falx cerebri, Microphthalmia, Retino...	ORPHA:77301
Myhre Syndrome	Small for gestational age, Ataxia, Microcephaly, Cryptorchidism, Obesity, Microphthalmia	OMIM:139210
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia, Syndromic 6	Failure to thrive, Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Retinal ...	OMIM:607932
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Adenoma se...	ORPHA:2612
Monosomy 9P	Hypospadias, Microcephaly, Cryptorchidism, Hypertonia, Ambiguous genitalia, Microphthalmia, Agene...	ORPHA:261112
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration...	OMIM:601812
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Rodrigues Blindness	Microphthalmia	OMIM:268320
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Dubowitz Syndrome	Hypospadias, Microcephaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Rod-cone dystr...	OMIM:223370
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Cryptorchidism, Abnormal pupil morphology, Cigarette-paper scars, C...	ORPHA:286
Scorpion Envenomation	Tremor, Mydriasis	ORPHA:466677
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Failure to thrive	OMIM:302960
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Hypertonia, Supernumerary nipple, Microcephaly	ORPHA:1236
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Mycophenolate Mofetil Embryopathy	Microphthalmia, Agenesis of corpus callosum, Chorioretinal coloboma	ORPHA:268249
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Cryptorchidism, Corneal scarring, Developmental cataract, Keloids, Ename...	OMIM:309000
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cholelithiasis, Aganglionic megacolon, Microcep...	ORPHA:567
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Large basal ganglia, Webbed penis, Micropenis, Agenesis of corpus callosum, Hyposp...	ORPHA:261537
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Hypoplasia of th...	ORPHA:3472
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat...	ORPHA:91500
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, Optic disc coloboma, Chorioret...	ORPHA:141099
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Torticollis, Hypospadias, Microcephaly, Cryptorchidism, Clitoral hypoplasia, Micro...	OMIM:609945
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Mowat-Wilson Syndrome	Bifid scrotum, Large basal ganglia, Webbed penis, Micropenis, Agenesis of corpus callosum, Hyposp...	ORPHA:2152
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Facial palsy, Optic disc coloboma, Congenital hypothyroidis...	OMIM:620186
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Ambiguous genitali...	OMIM:249000
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Cousin Syndrome	Hydranencephaly, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia...	OMIM:603457
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Microcephaly, Cryptorchidism, Optic atrophy, Clitoral hypopla...	OMIM:305600
Adams-Oliver Syndrome 1	Supernumerary nipple, Microcephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus ...	OMIM:100300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ambiguous genitalia, M...	ORPHA:1052
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis...	ORPHA:672
White-Kernohan Syndrome	Dysplastic corpus callosum, Hypothyroidism, Obesity, Rectovaginal fistula	OMIM:619426
Renpenning Syndrome 1	Hypospadias, Phimosis, Microcephaly, Cerebral atrophy, Microphthalmia, Spasticity, Decreased test...	OMIM:309500
Holoprosencephaly 7	Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Agenesis of corp...	OMIM:610828
Degcags Syndrome	Hypospadias, Small for gestational age, Microcephaly, Cryptorchidism, Vocal cord paralysis, Chord...	OMIM:619488
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Chorioretinal coloboma	ORPHA:2092
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,...	OMIM:263650
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Microcephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Micr...	OMIM:616734
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Small for gestational age, Microcephaly, Cryptorchidism, Hypoplasti...	OMIM:612289
Hallermann-Streiff Syndrome	Microphthalmia, Microcephaly, Hypothyroidism, Cryptorchidism	ORPHA:2108
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma, Calcification of falx cerebri	OMIM:109400
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Lissencephaly, Brain atrophy, Primary microcephaly, Hydranencephaly...	OMIM:256520
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Crypto...	ORPHA:857
Osteoporosis-Pseudoglioma Syndrome	Microcephaly, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Mi...	OMIM:259770
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Microcephaly, Hypothyroidism, Cryptorchidism	OMIM:620005
Teebi-Shaltout Syndrome	Microphthalmia, Microcephaly	OMIM:272950
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:214800
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Roberts Syndrome	Microcephaly, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy	ORPHA:3103
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology	ORPHA:91387
Cat Eye Syndrome	Microphthalmia, Chorioretinal coloboma	OMIM:115470
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Absent gallbladder	OMIM:184705
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Microcephaly, Cryptorchidism, Bico...	ORPHA:2052
Monosomy 13Q14	Microphthalmia, Retinoblastoma, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:1587
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Hydrolethalus Syndrome 1	Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Bifid uterus, Anencephaly, Adr...	OMIM:236680
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Aplasia of the uterus	OMIM:614083
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Microphthalmia, Micropenis, Agenesis of cor...	OMIM:236100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Agenesis of corpus callosum, Pericallosal lipoma	ORPHA:306542
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Adrenal hypoplasia, Microcephaly, Agenesis of corpus cal...	OMIM:157170
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Failure to thrive, Microcephaly	OMIM:608670
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Small for gestational age, Optic nerve hypoplasia, Bilateral microph...	ORPHA:508488
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Fraser Syndrome 1	Anophthalmia, Hypospadias, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Bilateral mi...	OMIM:219000
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Facial palsy, Supernumerary nipple, Microcephaly, Cryptorchidism, Reti...	OMIM:113620
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Microcephaly, Absent gallbladder	ORPHA:3186
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, Mi...	OMIM:619539
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm...	OMIM:273395
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Aganglionic megacolon, Microcephaly, Cryptorchidism, Optic disc colobo...	OMIM:309800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Microcephaly, Cryptorchidism, Long penis, Bicornuate uterus, ...	OMIM:268300
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Agenesis of corpus callosum	OMIM:164210

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 Rab18

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 Rab18.

No publications found that use IMPC mice or data for Rab18.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rab18^{tm80910(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rab18^{tm80910(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rab18^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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