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
impaired pupillary reflex	Rab18^{Gt(EUCE0233a03)Hmgu}	HET	Early adult	7.94×10^-06
decreased circulating creatinine level	Rab18^{Gt(EUCE0233a03)Hmgu}	HET	Early adult	3.36×10^-05

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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 (792 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		Small scrotum, Optic atrophy, Cerebral cortical atrophy, Polymicrogyria, Inability to walk, Decre...	OMIM:614222
Micro Syndrome		Lissencephaly, Optic atrophy, Spasticity, Cerebral cortical atrophy, Retinal coloboma, Aplasia/Hy...	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, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil...	ORPHA:98765
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu...	OMIM:302800
Optic Atrophy 2	Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor	OMIM:311050
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege...	OMIM:614436
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, T...	OMIM:618276
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased motor nerve conduction v...	OMIM:214400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Ataxia, Decreased serum estradiol, Decreased motor nerve conduction velocity, Cerebral atrophy, D...	OMIM:604168
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated...	OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Generalized dystonia, Eye of the tiger a...	OMIM:619389
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o...	OMIM:601596
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Spastic Paraplegia 45, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Hypoplasia of the corpus callosum, Dysplastic corpus callosum,...	OMIM:613162
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens...	ORPHA:98856
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Spasticity, Tremor, Microcephaly, Microphthalmia, Small for gestational age	OMIM:278780
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus cal...	OMIM:615771
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration	OMIM:616155
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Cerebellar atrophy, Failure to thrive, Tetraparesis, Cryptorchidism, Hypogonadotro...	OMIM:619310
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda...	OMIM:620317
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp...	OMIM:602433
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Abno...	ORPHA:88628
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,...	ORPHA:599373
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Marcus Gunn pupil, Vitreous infl...	ORPHA:284454
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus...	ORPHA:401820
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Te...	OMIM:274270
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa...	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Lower limb spasticity, Abnormal...	OMIM:616948
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Abnormal cerebral white matter morphology, Axonal degenerati...	OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati...	OMIM:615490
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Abn...	OMIM:612319
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Falls, Failure to thrive, Axonal degeneration, Clonus	OMIM:618811
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysme...	ORPHA:48431
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Chorioretinal coloboma	OMIM:616428
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetraparesis, Choreoathetosis, Cogw...	ORPHA:225154
Multiple Mitochondrial Dysfunctions Syndrome 6	Leukoencephalopathy, Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Inability ...	OMIM:617954
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, N...	OMIM:615889
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Peripheral demyelination, Loss of ambulation, Clonus, Ataxia, Un...	OMIM:614877
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera...	OMIM:616811
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Peripheral axonal neu...	OMIM:620221
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Hypoplasia of th...	OMIM:614559
Striatonigral Degeneration, Infantile	Optic atrophy, Spasticity, Failure to thrive, Dystonia, Choreoathetosis	OMIM:271930
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Symmetric lesions of the basal ganglia, Tremor, Rigidity, Gait dist...	OMIM:609161
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Amenorrhea, Per...	OMIM:619425
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Babinski sign, Clumsiness, Oculomo...	ORPHA:453521
Autosomal Recessive Spastic Paraplegia Type 46	Broad-based gait, Difficulty walking, Head tremor, Peripheral axonal neuropathy, Abnormal pyramid...	ORPHA:320391
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Retinopathy, Dysmetria, ...	OMIM:613647
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Macular degeneration, Tip-toe gait, Impaired vibra...	OMIM:604360
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia...	OMIM:608984
Cherubism	Marcus Gunn pupil, Optic neuropathy, Macular scar	OMIM:118400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis...	OMIM:620011
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology	ORPHA:101082
Behr Syndrome	Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Cerebella...	OMIM:210000
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Retinal degeneration, Hypergastrinemia, Babinski sign, Dysplas...	OMIM:252650
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Epilepsy, Progressive Myoclonic, 1B	Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Secondary microcephaly, Obesity, Periventricular white matter hyper...	OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Spasticity, Failure to thrive, Adrenal insufficiency, Agenesis of corpus callosum,...	OMIM:618238
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Retinopathy, Microcephaly, Macular atrophy, ...	OMIM:616171
De Sanctis-Cacchione Syndrome	Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Bilateral cryptorchidism, Basa...	OMIM:278800
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo...	ORPHA:98762
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly, Chorioretinal dysplasia	OMIM:616335
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera...	ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia...	OMIM:615643
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Juvenile Huntington Disease	Broad-based gait, Neuronal loss in basal ganglia, Cerebellar atrophy, Cerebellar vermis atrophy, ...	ORPHA:248111
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Cerebellar atrophy, Polymicrogyria, Decreased body weight, Agenesis of corpus callosu...	OMIM:614833
Lissencephaly, X-Linked, 1	Spasticity, Pachygyria, Agenesis of corpus callosum, Ataxia, Micropenis, Agyria, Lissencephaly	OMIM:300067
Gombo Syndrome	Microcephaly, Delayed puberty, Microphthalmia	OMIM:233270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cerebral atrophy, Pachygyria, Abnormality of retinal pigmentation, Microcephaly, Re...	OMIM:251270
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos...	ORPHA:401830
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal de...	OMIM:604320
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Warburg Micro Syndrome 1	Optic atrophy, Failure to thrive, Cerebral atrophy, External genital hypoplasia, Cryptorchidism, ...	OMIM:600118
Adrenomyeloneuropathy	Spasticity, Distal sensory impairment, Cerebral dysmyelination, Atrophy/Degeneration involving th...	ORPHA:139399
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit...	ORPHA:401768
Retinitis Pigmentosa 56	Optic disc pallor, Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Leukoencephalopathy With Ataxia	Leukoencephalopathy, Choroidal neovascularization, Limb ataxia, Gait ataxia, Action tremor, Chori...	OMIM:615651
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased serum creatinine, Hypohomocysteinemia, Tremor	OMIM:617744
Myopathy, Tubular Aggregate, 1	Flexion contracture, Abnormal pupil morphology, Joint contracture	OMIM:160565
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Iris cyst	OMIM:620086
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum, Ataxia	ORPHA:85334
Alexander Disease	Death in adolescence, Microcoria, Death in childhood, Death in infancy	OMIM:203450
Cofs Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypogonadism, Cerebral calcification, Abnormality of re...	ORPHA:1466
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Spastic paraplegia, Optic atrophy, Partial agenesis of the corpus callosum, Dystonia, Microcephal...	OMIM:245349
Spastic Paraplegia 79B, Autosomal Recessive	Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti...	OMIM:615491
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract	ORPHA:39044
Developmental And Epileptic Encephalopathy 1	Global brain atrophy, Dystonia, Microcephaly, Abnormal pyramidal sign, Hypertonia, Microphthalmia...	OMIM:308350
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
3-Methylglutaconic Aciduria, Type I	Leukoencephalopathy, Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Abnormal cer...	OMIM:250950
Spinocerebellar Ataxia Type 17	Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Craniotelencephalic Dysplasia	Optic atrophy, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Septo-optic dysplasia, ...	ORPHA:1528
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Lissencephaly Due To Tuba1A Mutation	Spasticity, Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, A...	ORPHA:171680
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of the retina, ...	OMIM:611040
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal...	OMIM:604213
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, I...	ORPHA:504476
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to...	OMIM:616881
Mepan Syndrome	Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy,...	ORPHA:508093
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv...	ORPHA:250972
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Foxg1 Syndrome	Abnormal corpus callosum morphology, Spasticity, Optic disc hypoplasia, Difficulty walking, Inabi...	ORPHA:561854
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Microphthalmia, Lissencephaly, Optic nerve...	OMIM:218670
Cataract 11, Multiple Types	Chorea, Hypertonia, Microphthalmia	OMIM:610623
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy, Primary amenorrhea	OMIM:616947
Autosomal Spastic Paraplegia Type 58	Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli...	ORPHA:397946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility	OMIM:613909
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Microphthalmia/Coloboma 4	Microcornea, Coloboma	OMIM:251505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Focal cortical dysplasia, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly, Mic...	OMIM:613155
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Exudative Vitreoretinopathy 6	Chorioretinal atrophy, Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Tremor	OMIM:612736
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy	OMIM:609141
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Pigmentary retinopathy, Failure ...	OMIM:617282
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Warburg Micro Syndrome 4	Small scrotum, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Decreased motor nerv...	OMIM:615663
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, O...	ORPHA:263479
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti...	ORPHA:500166
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of toe, Nuclear cataract, Camptodactyly of finger	ORPHA:2848
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microcephaly, Progressive spasticity, Microphthalmia	ORPHA:2528
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Myoclonus, Babinski sign, P...	OMIM:620538
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Eye of the tiger anomaly of ...	OMIM:614298
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Lissencephaly 8	Optic atrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Appendic...	OMIM:617255
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil morpholog...	ORPHA:3163
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Agenesis of corpus callosum, Microphthalmia	OMIM:616570
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Abnormal pupil morphology	ORPHA:2151
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Biemond Syndrome Type 2	Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias	ORPHA:141333
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Spasticity, Secondary microcephaly, Cryptorchidism, Microphthalmia, Optic disc pallor	OMIM:613730
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla...	OMIM:106210
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
2Q24 Microdeletion Syndrome	Cataract, Coloboma, Abnormality iris morphology, Camptodactyly of finger	ORPHA:1617
Mevalonic Aciduria	Cataract, Nuclear cataract, Optic disc pallor	OMIM:610377
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Eye of the tiger anomaly of globus pal...	OMIM:300894
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Retinal coloboma, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Rod-cone dy...	ORPHA:363741
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism	ORPHA:54
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Dys...	OMIM:619653
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Cavitation of the basal ganglia, Laryngeal dystonia, Neurodegeneration...	OMIM:606159
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,...	OMIM:310600
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Inguinal hernia, Hip contracture, Zonular cataract, Flexion contracture, Optic nerve hy...	OMIM:222765
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Tr...	OMIM:250620
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Pierpont Syndrome	Abnormal peripheral nervous system morphology, Failure to thrive, Cryptorchidism, Decreased body ...	OMIM:602342
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia	ORPHA:2432
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Pontocerebellar Hypoplasia Type 2	Spasticity, Abnormal cortical gyration, Upper limb hypertonia, Paroxysmal dystonia, Hypoplasia of...	ORPHA:2524
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Macular degeneration, Resting tremor, Akinesia, Gait ataxia, Intentio...	ORPHA:247234
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Warburg Micro Syndrome 3	Small scrotum, Optic atrophy, Cerebral cortical atrophy, Polymicrogyria, Inability to walk, Decre...	OMIM:614222
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cerebral atrophy, Tremor, Hypothyroidism, Ataxia, Testicul...	OMIM:222300
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Dysplastic corpus callosum, Cryptorchidism	ORPHA:502430
Kallmann Syndrome With Spastic Paraplegia	Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cr...	OMIM:308750
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Hypogonadism, Decreased nerve conducti...	OMIM:610651
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Sensory axonal neuropathy, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Primary amenorrhea...	OMIM:157640
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
3-Methylglutaconic Aciduria, Type Viib	Cataract, Tremor, Opisthotonus, Zonular cataract, Dystonia, Flexion contracture, Choreoathetosis	OMIM:616271
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Temporal optic disc pallor	OMIM:619649
Mmep Syndrome	Microcephaly, Cryptorchidism, Microphthalmia	ORPHA:3434
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Leber Optic Atrophy	Optic atrophy, Leber optic atrophy, Postural tremor, Central retinal vessel vascular tortuosity, ...	OMIM:535000
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Cerebellar atrophy, Failure to thrive, Akinesia, Optic disc pallor, Lower limb spa...	OMIM:618249
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Di...	ORPHA:77299
Pierpont Syndrome	Atrophy/Degeneration affecting the central nervous system, Abnormal cortical gyration, Cryptorchi...	ORPHA:487825
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis	OMIM:610023
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract, Joint contracture of the hand, Atypical scarring of skin, Abnormal dental ename...	OMIM:601701
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Opt...	OMIM:300887
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Proteus-Like Syndrome	Cataract, Subcutaneous lipoma, Abnormal pupil morphology, Heterochromia iridis, Limbal dermoid, S...	ORPHA:2969
Foveal Hypoplasia 2	Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia	OMIM:609218
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Failure to thrive, Neurodegeneration, Basal ganglia calcification, Brain atro...	OMIM:214150
Joubert Syndrome 22	Temporal cortical atrophy, Hypoplasia of the corpus callosum, Oculomotor apraxia, Microphthalmia,...	OMIM:615665
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Loss of ambulation, Abnormal vitreous humor morphology, Retinal deta...	ORPHA:2788
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Anophthalmia, Chorioretinal coloboma, Microphthalmia	OMIM:611638
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurode...	OMIM:610217
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor, Agenesis of corpus callosum	OMIM:231950
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:617914
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Anophthalmia, Mic...	OMIM:164180
Congenital Varicella Syndrome	Cerebral cortical atrophy, Microcephaly, Microphthalmia	ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Polymicrogyria, Type II lissencephaly, Retinal detachment, Microphthalmia, O...	OMIM:615181
Kennedy Disease	Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy...	ORPHA:481
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Moebius Syndrome	Decreased testicular size, Facial diplegia, Clumsiness, Hypogonadotropic hypogonadism, Gait distu...	OMIM:157900
Idiopathic Uveal Effusion Syndrome	Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia	ORPHA:209956
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus callosum, Peripheral axonal...	OMIM:619955
Autosomal Recessive Cutis Laxa Type 2A	Spasticity, Inability to walk, Secondary microcephaly, Dysplastic corpus callosum, Primary microc...	ORPHA:357058
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Chorioretinal coloboma, Microphthalmia	ORPHA:1473
Familial Congenital Mirror Movements	Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,...	ORPHA:238722
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Difficulty walking, Failure to thrive in...	ORPHA:488627
Warburg Micro Syndrome 2	Small scrotum, Optic atrophy, Global brain atrophy, Polymicrogyria, Secondary microcephaly, Crypt...	OMIM:614225
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Enamel hypopl...	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Retinal dysplasia, Microphthalmia	OMIM:614830
Walker-Warburg Syndrome	Lissencephaly, Optic atrophy, Abnormal cortical gyration, Retinal dysplasia, Abnormal optic nerve...	ORPHA:899
Micro Syndrome	Lissencephaly, Optic atrophy, Spasticity, Cerebral cortical atrophy, Retinal coloboma, Aplasia/Hy...	ORPHA:2510
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, Al...	ORPHA:221091
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Retinitis Pigmentosa 86	Optic disc pallor, Cortical cataract	OMIM:618613
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Spasticity, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dyspla...	OMIM:617281
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal ...	ORPHA:1764
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Tremor, Fasciculations	OMIM:313200
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Microphthalmia	OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Type II lissencephaly, Agenesis of corpus callosum, Retinal detachment, Abnormal cerebral white m...	OMIM:613153
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age, Hypospadias, Cryptorchidism	OMIM:620135
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Hypoplasia o...	ORPHA:255138
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Spasticity, Cerebral cortical atrophy, Secondary microcephaly, Partial agenesis of...	ORPHA:500144
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Septooptic Dysplasia	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Absent septum pellu...	OMIM:182230
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Diffuse white matter abnormalities, Polymicrogyria, Type II lissencephaly, Agenesi...	ORPHA:370959
C3 Glomerulopathy	Elevated circulating creatinine concentration, Yellow/white lesions of the retina, Central serous...	ORPHA:329918
Congenital Toxoplasmosis	Failure to thrive in infancy, Cerebral calcification, Abnormality of retinal pigmentation, Microc...	ORPHA:858
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Involuntary movements, Reduced cerebral white matter volume, Failure to thrive, Se...	OMIM:620352
Birk-Landau-Perez Syndrome	Optic atrophy, Difficulty walking, Failure to thrive in infancy, Limb ataxia, Agenesis of corpus ...	OMIM:617595
Duane Retraction Syndrome	Blepharospasm, Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pup...	ORPHA:233
Microphthalmia, Isolated 6	Retinal fold, Microphthalmia	OMIM:613517
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Congenital Fibrosis Of Extraocular Muscles	Cataract, Abnormal pupil shape, Torticollis, Anisocoria, Optic nerve hypoplasia	ORPHA:45358
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea	OMIM:615877
Kapur-Toriello Syndrome	Failure to thrive, Retinal coloboma, Polymicrogyria, Dysplastic corpus callosum, Hypoplastic labi...	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Lissencephaly, Optic atrophy, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum,...	OMIM:253800
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia	ORPHA:79233
Myoclonic-Astatic Epilepsy	Ataxia, Tremor, Microcephaly, Abnormal pyramidal sign, Microphthalmia, Unsteady gait	ORPHA:1942
Adams-Oliver Syndrome 2	Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Limb...	OMIM:614219
Fanconi Anemia, Complementation Group S	Ataxia, Failure to thrive, Ovarian carcinoma, Microcephaly, Microphthalmia, Ovarian neoplasm	OMIM:617883
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Spasticity, Failure to thrive, Polymicrogyria, Microphthalmia	OMIM:612379
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Facial palsy, Failure to thrive	OMIM:615085
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Joint contracture of the hand, Abnormal pupil morphology, An...	ORPHA:90658
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Papilledema, Hyperkalemia	OMIM:620366
Coach Syndrome 2	Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Microphthalmia, Syndromic 13	Microcephaly, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Kanzaki Disease	Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, W...	OMIM:609242
Joubert Syndrome 37	Decreased testicular size, Obesity, Cryptorchidism, Hypoplasia of the corpus callosum, Oculomotor...	OMIM:619185
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:231550
Facial Spasm	Anisocoria	OMIM:134300
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microcephaly, Microphthalmia, O...	ORPHA:85284
Vitreoretinochoroidopathy	Microcornea, Developmental cataract, Abnormality of chorioretinal pigmentation, Pulverulent cataract	OMIM:193220
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma,...	OMIM:101000
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Optic atrophy, Resting tremor, Cerulean cataract, Anter...	ORPHA:67036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Congenital contracture, Peters anomaly, Death in infancy, Buphthalmos, Persistent pupil...	OMIM:613150
Seckel Syndrome 2	Basal ganglia calcification, Microcephaly, Primary microcephaly, Microphthalmia, Hypospadias, Sma...	OMIM:606744
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Agenesis of corpus callosum, Microcephaly, ...	ORPHA:139471
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Broad-based gait, Microphthalmia	OMIM:618805
Miller Fisher Syndrome	Mydriasis, Anisocoria, Facial palsy	ORPHA:98919
Baraitser-Winter Syndrome 1	Failure to thrive, Chorioretinal coloboma, Pachygyria, Cryptorchidism, Agenesis of corpus callosu...	OMIM:243310
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Intestinal Botulism	Mydriasis, Death in infancy	ORPHA:178481
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Neurodegeneration, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Chore...	OMIM:234200
Xk Aprosencephaly Syndrome	Microcephaly, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Spasticity, Thin corpus callosum, Microphthalmia	OMIM:619694
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Decreased body w...	OMIM:609053
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent...	OMIM:616900
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Failure to thrive, Cerebral palsy, Appendicular spasticity, Dysplastic corpus callosum, Microceph...	OMIM:620001
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Galloway-Mowat Syndrome 1	Optic atrophy, Spasticity, Spastic tetraplegia, Cerebellar atrophy, Cerebral atrophy, Hypoplasia ...	OMIM:251300
Joubert Syndrome 2	Abnormal corpus callosum morphology, Failure to thrive, Optic disc coloboma, Chorioretinal colobo...	OMIM:608091
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Hypoplasia of the corpus callo...	OMIM:614105
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcephaly, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia, ...	OMIM:152950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Chorioretinal coloboma, Microphthalmia	OMIM:120433
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebral atrophy, Polymicrogyria, Inability to walk, Cryptorchidism, Appendicular spasticity, Hyp...	OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Type II lissencephaly, Agenesis of corpus callosum, Retinal degeneration,...	OMIM:615249
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Death in childhood, Hypoplasia...	OMIM:609049
Benign Schwannoma	Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle...	ORPHA:252164
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Microphthalmia	OMIM:614402
Temtamy Syndrome	Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Cockayne Syndrome	Spasticity, Difficulty walking, Absence of pubertal development, Basal ganglia calcification, Cer...	ORPHA:191
Baraitser-Winter Syndrome 2	Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Pachygyria, Lissencephaly	OMIM:614583
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Coloboma, Corneal opacity, Ectopia pupillae	ORPHA:85167
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Agenesis of corpus callosum, Microphthalmia	ORPHA:93267
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Retinal dy...	OMIM:610125
Iatrogenic Botulism	Mydriasis, Orthostatic hypotension	ORPHA:254509
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Facial paralysis, Decreased motor nerve conduction velocity, Head tremor, Anisocoria	ORPHA:99949
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Spasticity, Dysplastic corpus callosum, Peripheral axonal neuropathy, Micropenis, Hydrocele testis	OMIM:618810
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Remnants of the hyaloid vascular system	ORPHA:2714
Microphthalmia, Syndromic 8	Microcephaly, Cryptorchidism, Microphthalmia	OMIM:601349
Coats Disease	Leukocoria	OMIM:300216
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract, Flexion contracture of finger	ORPHA:1010
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Failure to thrive, Bradykinesia, Spastic tetraparesis, Hypoplasia of the cor...	OMIM:614924
Knobloch Syndrome 1	Band keratopathy, Peripapillary atrophy, Chorioretinal atrophy, Iris transillumination defect, Co...	OMIM:267750
Joubert Syndrome 14	Ataxia, Optic atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Morning glory anomaly	OMIM:614424
Complex Regional Pain Syndrome	Involuntary movements, Somatic sensory dysfunction, Trophic changes related to pain, Dysesthesia,...	ORPHA:83452
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Agenesis of corpus cal...	OMIM:206900
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Congenital Rubella Syndrome	Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Mi...	ORPHA:290
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microcephaly, Microphthalmia, Micropenis, Small for gestational age	OMIM:610756
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Chorioretinal coloboma, Cryptorchidism, Hypoplasia of the corpus callosum, Microph...	ORPHA:494344
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Cerebral cortical atrophy, Decreased fertility, Microcephaly, Microphthalmia, Part...	OMIM:234050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Optic disc coloboma, Ectopia pupillae	OMIM:608940
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane	OMIM:257850
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Sever...	ORPHA:468631
Temtamy Syndrome	Chorioretinal coloboma, Agenesis of corpus callosum, Hypertonia, Microphthalmia, Thick corpus cal...	OMIM:218340
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cavum septum pellucidum, Polymicrogyria, Megalencephaly, Microphthalmia	OMIM:602501
Brain-Lung-Thyroid Syndrome	Incoordination, Agenesis of corpus callosum, Ataxia, Hypoparathyroidism, Hypospadias, Choreoathet...	ORPHA:209905
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Trisomy 13	Optic atrophy, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Di...	ORPHA:3378
Curry-Jones Syndrome	Agenesis of corpus callosum, Optic disc coloboma, Microphthalmia	ORPHA:1553
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Failure to thrive, Ce...	OMIM:133540
Fanconi Anemia, Complementation Group G	Microcephaly, Microphthalmia	OMIM:614082
Serotonin Syndrome	Mydriasis, Abnormality of the autonomic nervous system, Tremor	ORPHA:43116
Myotonic Dystrophy 1	Cholelithiasis, Cerebral atrophy, Hypogonadism, Facial diplegia, Testicular atrophy	OMIM:160900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Limb dystonia, Astigmati...	OMIM:175780
Hydrolethalus	Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal fal...	ORPHA:2189
Cat-Eye Syndrome	Chorioretinal coloboma, Microphthalmia	ORPHA:195
Bickerstaff Brainstem Encephalitis	Mydriasis, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono...	ORPHA:79138
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cryptorchidism, Agenesis of corpus callosum, Microphthalmia, Vaginal atresia, Sept...	ORPHA:3301
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth...	ORPHA:83461
Anterior Cutaneous Nerve Entrapment Syndrome	Hyperesthesia, Somatic sensory dysfunction, Decreased body weight, Impaired tactile sensation, Al...	ORPHA:51890
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Failure to thrive, Hypertonia	OMIM:604273
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy, Hemiplegia/hemiparesis, Abnormal pyramidal sign...	ORPHA:773
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Polymicrogyria, Type II lissencephaly, Cryptorchidism, Hypoplasia of the corpus ca...	OMIM:236670
Meckel Syndrome, Type 8	Microcephaly, Ambiguous genitalia, Anophthalmia, Microphthalmia	OMIM:613885
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Hypogonadism, Cryptorchidism, Agenesis of corpus callosum, Microphthalmia	ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum, Hypoplasia of the...	OMIM:614643
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor	OMIM:274150
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplas...	ORPHA:649
Trichinellosis	Conjunctival hyperemia, Facial palsy, Anisocoria, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Opisthotonus, Microphthalmia, Micropenis	ORPHA:335
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Heart And Brain Malformation Syndrome	Global brain atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Limb hyp...	OMIM:616920
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Spasticity, Microcephaly, Microphthalmia, Choreoathetosis	OMIM:278730
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Microphthalmia	ORPHA:1438
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Atypical scarring of skin, Umbilical hernia, Abnormal dental enamel morpho...	ORPHA:534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Frontonasal Dysplasia 1	Agenesis of corpus callosum, Pericallosal lipoma, Microphthalmia	OMIM:136760
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Cerebellar atrophy, Failure to thrive, Decreased pineal volume	OMIM:301108
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma, Cortical ...	ORPHA:637
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Polymicrogyria, Failure to thrive in infancy, Decreased body weight, Mi...	OMIM:610758
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Hypoplasia of penis, H...	ORPHA:77298
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Aicardi Syndrome	Precocious puberty, Optic atrophy, Spasticity, Optic disc coloboma, Chorioretinal coloboma, Polym...	ORPHA:50
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Neurotrophic Keratopathy	Hyperesthesia, Abnormal fifth cranial nerve morphology, Diabetes mellitus, Allodynia	ORPHA:137596
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Clitoral hypertrophy, Cerebral atrophy, Cavum septum pellucidum, Hypoplasia of the co...	OMIM:616449
Craniolenticulosutural Dysplasia	Optic atrophy, Posterior Y-sutural cataract, Punctate cataract	OMIM:607812
Hartsfield Syndrome	Aplasia/Hypoplasia of the corpus callosum, Microphthalmia	ORPHA:2117
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Cerebral palsy, Hypoplasia of the corpus callosum, Hypertonia, Micr...	OMIM:618914
Spinal Cord Injury	Spasticity, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Abnormal...	ORPHA:90058
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, P...	OMIM:619179
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Cholelithiasis, Lateral ventricle dilatation, Male urethral meatus stenosis, Cerebral...	ORPHA:464738
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Zonular cataract	OMIM:268400
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O...	ORPHA:98977
Nephronophthisis 11	Anisocoria	OMIM:613550
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of the brachial nerve plexus	ORPHA:247245
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Lesch-Nyhan Syndrome	Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus, Testicular atrophy, Dysto...	OMIM:300322
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
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Wound Botulism	Mydriasis	ORPHA:178475
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract	OMIM:302350
Sandestig-Stefanova Syndrome	Primary microcephaly, Small for gestational age, Hypoplasia of the corpus callosum, Microphthalmia	OMIM:618804
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Monosomy 18P	Microcephaly, Hypothyroidism, Generalized dystonia, Microphthalmia	ORPHA:1598
Scalp-Ear-Nipple Syndrome	Cataract, Multiple lipomas, Developmental cataract, Anisocoria, Iris coloboma	OMIM:181270
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Bilateral cryptorchidism	OMIM:618652
Microphthalmia, Lenz Type	Optic disc coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Cryptorch...	ORPHA:568
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Cryptorchidism, Dysplastic corpus callosum, Microcephal...	OMIM:619103
Cockayne Syndrome Type 3	Difficulty walking, Basal ganglia calcification, Brain atrophy, Abnormality of peripheral nerve c...	ORPHA:90324
Pudendal Neuralgia	Scrotal pain, Paresthesia, Dyspareunia, Erectile dysfunction, Allodynia	ORPHA:60039
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Spasticity, Failure to thrive, Dysplastic corpus callosum	OMIM:619423
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Microcephaly, Bilateral microphthalmos	OMIM:619318
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Anophthalmia, Mic...	ORPHA:2470
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Kenny-Caffey Syndrome, Type 2	Basal ganglia calcification, Papilledema, Microphthalmia, Hypoparathyroidism, Retinal calcificati...	OMIM:127000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Spastic paraparesis, Bilateral microphthalmos, Incoordination, Cryptorchidism, Ataxia	ORPHA:369891
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal...	OMIM:212550
Multiple Benign Circumferential Skin Creases On Limbs

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