Gene Summary

Name:
adipocyte plasma membrane associated protein
Synonyms:
2310001A20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
fused cornea and lens Apmapem1(IMPC)J HOM Late adult 5.08×10-05
abnormal optic disk morphology Apmapem1(IMPC)J HOM Late adult 6.50×10-05
abnormal lens morphology Apmapem1(IMPC)J HOM   Late adult 3.35×10-05
iris synechia Apmapem1(IMPC)J HOM Late adult 9.13×10-08
decreased grip strength Apmapem1(IMPC)J HOM Late adult 2.92×10-06
abnormal vitreous body morphology Apmapem1(IMPC)J HOM Late adult 5.08×10-05
abnormal mouth morphology Apmapem1(IMPC)J HOM Late adult 2.43×10-05
increased total body fat amount Apmapem1(IMPC)J HOM Late adult 9.98×10-06
abnormal vibrissa morphology Apmapem1(IMPC)J HOM Late adult 9.27×10-07
decreased lean body mass Apmapem1(IMPC)J HOM Late adult 8.58×10-06
abnormal retina blood vessel morphology Apmapem1(IMPC)J HOM Late adult 5.08×10-05
increased circulating alanine transaminase level Apmapem1(IMPC)J HOM Late adult 3.58×10-07
abnormal retina vasculature morphology Apmapem1(IMPC)J HOM Late adult 5.08×10-05
abnormal startle reflex Apmapem1(IMPC)J HOM Late adult 9.49×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Apmap mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Polyphagia, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Increas... ORPHA:276580
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Dec... OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Increas... ORPHA:276575
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Cataract, Retinal dysplasia, Elevated circulating creatine kinase concentrat... OMIM:613154
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellit... ORPHA:79085
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Excessive insulin response to glucagon test, Re... ORPHA:276556
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue i... ORPHA:435651
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:329249
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentration OMIM:608611
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Adrenal hypoplasia, Adreno... OMIM:609734
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Leptin Deficiency Or Dysfunction
Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Leptin Receptor Deficiency
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal eating behavior, Diabetes mellitus, Pit... OMIM:614963
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment, C... ORPHA:90654
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
2Q24 Microdeletion Syndrome
Short philtrum, Small for gestational age, Cataract, Abnormal oral frenulum morphology, Coloboma,... ORPHA:1617
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Obesi... OMIM:616188
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Flexion contracture, Optic atrophy OMIM:616881
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Periventricular Nodular Heterotopia 7
Flexion contracture, Optic atrophy, Cleft palate OMIM:617201
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Striatonigral Degeneration, Infantile
Failure to thrive, Dystonia, Optic atrophy OMIM:271930
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Flexion contracture of toe, Ankle flexion contracture, Knee flexion contracture ORPHA:320396
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Filippi Syndrome
Short philtrum, Decreased body weight, Dystonia, Frontal hirsutism, Hypodontia, Microdontia, Abno... OMIM:272440
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Optic atrophy, Gingival overgrowth OMIM:619323
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 61
Open mouth, High palate, Optic atrophy, Thick vermilion border OMIM:617933
Woolly Hair
Hypopigmentation of hair, Brittle hair, Abnormal retinal morphology, Woolly hair, Sparse lateral ... ORPHA:170
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Cherubism
Abnormality of the dentition, Oligodontia, Optic atrophy, Abnormality of dental morphology ORPHA:184
Temple Syndrome
Recurrent hypoglycemia, Precocious puberty, Type II diabetes mellitus, Polyphagia, Decreased resp... ORPHA:254516
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Hypopigmentation of hair, Anterior synechiae of the anterior chamber, Delayed eru... ORPHA:3214
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Cone dystrophy, Optic disc pallor OMIM:268040
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Spasticity, Childhood-Onset, With Hyperglycinemia
Hyperglycinemia, Optic atrophy OMIM:616859
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Leber Hereditary Optic Neuropathy
Postural tremor, Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor, Generalized... OMIM:619389
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Everted lower lip vermilion, Arthrogryposis multip... ORPHA:1466
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Dystonia, Optic atrophy ORPHA:385
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Mucolipidosis Iv
Retinal degeneration, Dystonia, Corneal opacity, Opacification of the corneal stroma, Optic atrophy OMIM:252650
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Lissencephaly 8
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy OMIM:617255
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Long philtrum, Microcornea, Astigmatism, Cataract... OMIM:152950
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Cataract, Optic atrophy ORPHA:329314
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Abnormality of the optic nerve, Aplasia/Hypo... ORPHA:33445
Retinitis Pigmentosa
Atypical scarring of skin, Abnormality of retinal pigmentation, Cataract, Obesity, Keratoconus, O... ORPHA:791
Intellectual Developmental Disorder, X-Linked 104
High palate, Optic atrophy, Frontal upsweep of hair, Tremor OMIM:300983
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Retinopathy, Focal dystonia, Oromandibular dystonia, Limb dystonia, Optic atrophy... ORPHA:216873
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth, Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Nescav Syndrome
Peripheral axonal neuropathy, Flexion contracture, Optic atrophy OMIM:614255
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Jaberi-Elahi Syndrome
Dystonia, Cataract, Sparse eyebrow, Tremor, Failure to thrive, Sparse eyelashes, Abnormality of t... OMIM:617988
Otodental Syndrome
Long philtrum, Retinal coloboma, Pulp calcification, Gingival overgrowth, Microcornea, Cataract, ... ORPHA:2791
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Warburg Micro Syndrome 1
Narrow mouth, Developmental cataract, Microcornea, Failure to thrive, Hypertrichosis, Thin vermil... OMIM:600118
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Behr Syndrome
Achilles tendon contracture, Hamstring contractures, Adductor longus contractures, Optic atrophy,... OMIM:210000
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Retinal vascular tortuosity, Cleft palate, Optic atrophy OMIM:618768
Distal Monosomy 6P
Short philtrum, Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology,... ORPHA:96125
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Subcapsular cataract, Intention tremor, Decreased nerve conduction v... OMIM:612674
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Intellectual Developmental Disorder, X-Linked 101
Short philtrum, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
High palate, Exudative vitreoretinopathy, Long philtrum, Thin upper lip vermilion, Optic atrophy OMIM:615075
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy, Failure to thrive OMIM:614877
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Optic atrophy, Tremor OMIM:614947
4H Leukodystrophy
Dystonia, Drooling, Delayed eruption of teeth, Cataract, Hypodontia, Abnormality of the dentition... ORPHA:289494
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor, Flexion contracture, Drooling OMIM:619328
Renal Glucosuria
Glycosuria, Polydipsia, Polyphagia OMIM:233100
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergo... OMIM:606407
Camos Syndrome
Optic atrophy ORPHA:83472
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Los... ORPHA:280365
Developmental And Epileptic Encephalopathy 49
Short philtrum, Long eyelashes, Open mouth, Thick upper lip vermilion, Optic atrophy OMIM:617281
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Retinal vasculitis, Anterior chamber flare, Chorio... ORPHA:91500
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy ORPHA:1171
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Lamb-Shaffer Syndrome
Open mouth, Dental crowding, Optic atrophy OMIM:616803
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
High palate, Long philtrum, Long eyelashes, Astigmatism, Optic disc pallor, Thin upper lip vermilion OMIM:617523
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Elevated circulating creatine kin... ORPHA:101082
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Macrosomia Adiposa Congenita
Polyphagia, Adrenocortical adenoma OMIM:248100
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Flexion contracture, Macular degeneration, Optic atrophy OMIM:256730
Brunet-Wagner Neurodevelopmental Syndrome
Thin eyebrow, Low anterior hairline, Optic atrophy, Thick vermilion border OMIM:619690
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Developmental And Epileptic Encephalopathy 16
Dystonia, Optic atrophy OMIM:615338
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Optic disc pallor ORPHA:3173
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation, Low posterior hairline ORPHA:3456
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Optic atrophy, Craniofacial dystonia OMIM:617282
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Abnormality of the optic nerve, Microcornea, Chorioretin... ORPHA:2707
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Flexion contracture, Optic disc pallor, Exaggerated startle response, ... OMIM:609541
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Long philtrum, Cataract, Optic nerve hypoplasia, Failure to thrive, Optic... ORPHA:163937
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Knee flexion contracture OMIM:619303
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Failure to thrive, Optic atrophy OMIM:274270
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Small for gestational age, Optic atrophy, Failure to thrive, Hyperalaninemia OMIM:614702
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Cataract, Decreased sensory nerve conduction velocity, P... OMIM:609033
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity, Intention tremor ORPHA:98890
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy, Tremor OMIM:619470
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Decreased number of peripheral myelinated nerve fibers, Peripheral a... ORPHA:320406
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Optic Atrophy 6
Optic atrophy OMIM:258500
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, High palate, Dystonia, Smooth philtrum, Optic atrophy, Gingival overgrowth, Tremor OMIM:619422
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia OMIM:619052
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Narrow palate, Progressive flexion contractures, Optic atrophy OMIM:617481
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Thin vermilion border, Optic atrophy, Arthrogryposis multiplex congenita OMIM:618766
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Tremor, Macular degeneration, Optic atrophy OMIM:164500
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism OMIM:617119
Optic Atrophy 9
Optic atrophy OMIM:616289
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Dystonia, Optic atrophy, Rod-cone dystrophy OMIM:264470
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dystonia, Optic atrophy, Elevated circulating acylcarnitine concentration ORPHA:26792
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Diencephalic Syndrome
Decreased body weight, Everted lower lip vermilion, Optic atrophy, Cachexia ORPHA:1672
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Hyperglycemia OMIM:615986
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Macroglossia, Elevated circulating creatine... ORPHA:370959
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia ... OMIM:609049
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Joint contractures involving the joints of the feet, Dystonia, Abnorma... ORPHA:457205
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Optic atrophy ORPHA:352596
Schaaf-Yang Syndrome
Flexion contracture, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Hypogonadism OMIM:615547
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Cataract, Retinal dysplasia, Camptodactyly of finger, Optic atrophy ORPHA:272
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Ankle flexion contracture, High, narrow palate, Knee fl... OMIM:608799
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Short philtrum, Decreased body weight, Flexion contracture, Small for gestational age, Tented upp... OMIM:618346
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Abnormal palate morphology, Optic atrophy ORPHA:44
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Flexion contracture, Optic atrophy OMIM:618324
Yoon-Bellen Neurodevelopmental Syndrome
High palate, Failure to thrive, Optic atrophy OMIM:619701
Infantile Refsum Disease
Optic atrophy, Cataract, Rod-cone dystrophy, Failure to thrive, Facial palsy, Elevated levels of ... ORPHA:772
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
High palate, Dystonia, Optic atrophy, Increased serum pyruvate, Hyperalaninemia OMIM:245349
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Blepharonasofacial Malformation Syndrome
Torsion dystonia, Long philtrum, Sparse lateral eyebrow, Non-midline cleft lip, Abnormal eyelash ... ORPHA:1252
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Walker-Warburg Syndrome
Bifid uvula, Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea,... ORPHA:899
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy OMIM:617669
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Congenital Disorder Of Glycosylation, Type Iu
High palate, Elevated circulating creatine kinase concentration, Thin upper lip vermilion, Optic ... OMIM:615042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Optic atrophy OMIM:613151
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Flexion contracture, Microcornea, Cataract, Low... OMIM:614222
Woods Syndrome
Frontal hirsutism, Supernumerary nipple, Thin vermilion border, Lingual dystonia, Optic atrophy OMIM:615236
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Contractures... ORPHA:2457
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Cataract, Geographic atrophy, Abnormal auditory evoked potentials, Synophry... OMIM:619260
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Pontocerebellar Hypoplasia, Type 3
High palate, Decreased body weight, Long philtrum, High, narrow palate, Downturned corners of mou... OMIM:608027
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Aplasia of the left hemidiaphragm, Dystonia, Optic atrophy OMIM:618238
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma, Hypertrichosis, Optic atrophy ORPHA:324737
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Flexion contracture, Iris coloboma, Failure to thrive, Arthrogryposis m... OMIM:601110
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Conical tooth, Oligodontia, Cataract, Astigmatism, Scarring alopecia of scalp,... OMIM:618727
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Mildly elevated creatine kinase, Peripheral axonal neuropathy, Optic at... ORPHA:401768
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Thick eyebrow, Smooth philtrum, Synophrys, Thin upper lip vermilion, Opti... OMIM:618737
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Sensory axonal neuropathy, Action tremor, Abnormal retinal morphology, Elevated c... ORPHA:254886
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Dystonia, Flexion contracture, Failure to thrive, Optic atrophy OMIM:618237
Short Syndrome
Lipodystrophy, Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxo... ORPHA:3163
Multiple Mitochondrial Dysfunctions Syndrome 6
Failure to thrive, Optic disc pallor, Dystonia OMIM:617954
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Pontocerebellar Hypoplasia, Type 9
Short upper lip, Peripheral axonal neuropathy, Optic atrophy, Macroglossia OMIM:615809
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperinsulinemia, Decreased adipose tissue around neck, Loss of truncal subc... OMIM:608612
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Camptodactyly of finger, Abnormal palate morphology, Optic atrophy ORPHA:1495
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Dystonia, Optic atrophy, Tremor ORPHA:330050
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Abnormality of the lens, Oligodontia, Hypodontia, Microdo... ORPHA:363417
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Trisomy 13
Long philtrum, Hernia, Iris coloboma, Cataract, Abnormal eyelash morphology, High, narrow palate,... ORPHA:3378
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Cone/cone-rod dystrophy, Synophrys, Reti... ORPHA:1021
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Optic atrophy OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Optic atrophy OMIM:618229
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Astigmatism, Widely spaced teeth, Rod-cone dystrophy, Torticollis, Thin upper lip vermilion, Opti... OMIM:618547
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy ORPHA:588
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... ORPHA:2714
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Protruding tongue, Cataract, Corneal opacity, Inguinal hernia, Gen... ORPHA:93399
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contracture OMIM:160565
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Pick Disease Of Brain
Polyphagia OMIM:172700
Leigh Syndrome With Leukodystrophy
Dystonia, Pigmentary retinopathy, Failure to thrive, Hypertrichosis, Optic atrophy ORPHA:255241
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Protruding tongue, Hypoplasia of the fovea... ORPHA:93400
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Leukodystrophy, Progressive, Early Childhood-Onset
Flexion contracture, Dystonia, Thick eyebrow, Thick lower lip vermilion, Optic disc pallor, Smoot... OMIM:617762
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leukodystrophy, Hypomyelinating, 21
Dystonia, Hypodontia, Athetosis, Failure to thrive, Optic atrophy OMIM:619310
Graves Disease, Susceptibility To, 1
Goiter, Graves disease, Polyphagia OMIM:275000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98754
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy, Tremor OMIM:270500
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Abnormal dental enamel morphology, ... ORPHA:1873
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Abnormal autonomic nervous system physiology, Tremor, Optic atrophy ORPHA:329284
Hsd10 Disease
Tremor, Optic atrophy, Drooling ORPHA:391417
Multiple Sulfatase Deficiency
Coarse hair, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thick eyebrow, Smoot... ORPHA:585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98793
Warburg Micro Syndrome 4
Narrow mouth, Developmental cataract, Flexion contracture, Long philtrum, Microcornea, Decreased ... OMIM:615663
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia, Papilledema OMIM:240150
Adams-Oliver Syndrome 2
Developmental cataract, Low anterior hairline, Optic atrophy OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Cataract, Retinal detachment, Retinal dysplasia, Elevated circulating creati... OMIM:253800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177904
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177901
Suleiman-El-Hattab Syndrome
High palate, Long philtrum, Drooling, Frontal hirsutism, Thick eyebrow, Thick lower lip vermilion... OMIM:618950
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Dystonia, Intention tremor, Decreased motor nerve conduction velocity,... OMIM:608804
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic... OMIM:300578
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Frontotemporal Dementia
Polyphagia OMIM:600274
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor ORPHA:99014
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Short upper lip, Short philtrum, Dystonia, Astigmatism, Low anterior hairline, Optic atrophy, Gin... OMIM:616875
Incontinentia Pigmenti
Atrophic, patchy alopecia, Uveitis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasi... OMIM:308300
Leukodystrophy, Hypomyelinating, 6
Dystonia, Optic atrophy, Tremor OMIM:612438
Triple A Syndrome
Motor axonal neuropathy, Iris coloboma, Optic atrophy ORPHA:869
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Drooling, Oligodontia, Hypodontia, Postural tremor, Optic atrophy OMIM:607694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:398073
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Cri-Du-Chat Syndrome
Premature graying of hair, High palate, Short philtrum, Bifid uvula, Small for gestational age, C... OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia OMIM:616521
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Generalized dystonia, Abnormality of the tongue, Pigmentary retinopathy, Rod-cone d... ORPHA:216866
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Leber Optic Atrophy
Dystonia, Leber optic atrophy, Optic neuropathy, Postural tremor, Optic atrophy, Central retinal ... OMIM:535000
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, Dystonia, Optic atrophy OMIM:300475
Spastic Paraplegia 2, X-Linked
Flexion contracture, Optic atrophy OMIM:312920
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Peripheral axonal neuropathy, Optic atrophy OMIM:619686
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Alg8-Cdg
Retinopathy, Hyponatremia, Small for gestational age, Cataract, Macroglossia, Failure to thrive, ... ORPHA:79325
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Woolly hair, Microcornea, Hypoplasia of teeth, Trichorrhexis nodosa, Abnormality of... OMIM:234050
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Dystonia, Flexion contracture, Optic atrophy OMIM:252011
Huntington Disease
Polyphagia, Oral-pharyngeal dysphagia, Choking episodes ORPHA:399
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Gingival overgrowth, Optic atrophy, Retinal detachment, ... ORPHA:3205
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Conjunctivitis, Optic disc hypoplasia, Retinal pigment ep... ORPHA:448237
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Smooth philtrum, Thin upper lip vermilion, Optic atrop... OMIM:615419
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Head titubation, Intention tremor OMIM:618688
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Widely spaced primary teeth, Enamel hypop... ORPHA:90321
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, E... ORPHA:552
Proteus-Like Syndrome
Subcutaneous lipoma, Shagreen patch, Heterochromia iridis, Open bite, Cataract, Retinal detachmen... ORPHA:2969
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Albinism, Astigmatism, Gingival bleeding, Optic disc pallor, Ocular albi... OMIM:614077
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Sclerosteosis
Facial palsy, Optic atrophy ORPHA:3152
Chops Syndrome
Long eyelashes, Thick eyebrow, Cataract, Obesity, Thick hair, Downturned corners of mouth, Optic ... OMIM:616368
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age OMIM:619057
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Retinal neovascularization, Cleft palate OMIM:619074
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Long philtrum, Open mouth, Cataract, Everted lower lip vermilion, Thick lower lip ve... OMIM:220500
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Dystonia, Optic atrophy OMIM:618226
Xfe Progeroid Syndrome
Corneal scarring, Attenuation of retinal blood vessels, Enamel hypoplasia, Failure to thrive, Abs... OMIM:610965
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Flexion contracture, Central hypothyroidism, Precociou... ORPHA:398069
Cohen Syndrome
Bull's eye maculopathy, Short philtrum, Small for gestational age, Chorioretinal dystrophy, Thick... OMIM:216550
Juvenile Paget Disease
Abnormality of the dentition, Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia ORPHA:2801
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
3-Methylglutaconic Aciduria, Type Ix
High palate, Failure to thrive, Optic atrophy, Long eyelashes OMIM:617698
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Macroglossia ORPHA:1914
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Long philtrum, Highly arched eyebrow OMIM:300887
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Drooling, Delayed eruption of teeth, Autonomic bladder dysfunction, Intention tremor, O... ORPHA:447896
Gm1 Gangliosidosis
Generalized hirsutism, Cherry red spot of the macula, Narrow mouth, Weight loss, Long philtrum, G... ORPHA:354
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Crouzon Syndrome
Iris coloboma, Narrow palate, Conjunctivitis, Optic atrophy ORPHA:207
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Contractures of the large joints, Deep philtrum, Elevated circulating creatine kinas... ORPHA:329178
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy, Joint contracture of the hand OMIM:258650
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus, Reduced subcutaneous adipose tissue OMIM:609069
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Retinal degeneration, Optic atrophy OMIM:214980
Warburg Micro Syndrome 2
Developmental cataract, Flexion contracture, Microcornea, Cataract, Low anterior hairline, Optic ... OMIM:614225
Autosomal Recessive Spastic Paraplegia Type 75
Astigmatism, Titubation, Temporal optic disc pallor ORPHA:459056
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Optic atrophy, Macroglossia OMIM:251900
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow OMIM:617121
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Distal Monosomy 7Q36
Non-midline cleft lip, Hernia, Cleft palate, Optic atrophy, Wide mouth ORPHA:1636
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
High palate, Cataract, Calcinosis, Optic atrophy OMIM:617913
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Intention tremor ORPHA:466794
Leigh Syndrome
Dystonia, Pigmentary retinopathy, Failure to thrive, Hypertrichosis, Optic atrophy OMIM:256000
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Cataract, Corneal opacity, Retinal dysplasia, Retinal detachment, Peters anomaly... OMIM:236670
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal retinal vascular morpholog... ORPHA:2715
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy ORPHA:496790
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Abnormal palate morphology, Fundus atrophy, Thick eyebrow, Synophrys, Abnormality of the dentitio... ORPHA:1970
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Developmental glaucoma, Cataract, Myelin outfoldings, Decreased distal sensory ne... ORPHA:99956
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Tented upper lip vermilion, Hypervalinemia, Elevated circulating creati... OMIM:615673
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Decreased inhibin B level, Cen... ORPHA:739
Vici Syndrome
High palate, Abnormal macular morphology, Abnormality of retinal pigmentation, Cataract, Optic at... ORPHA:1493
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Failure to thrive in infancy, Optic atrophy, Lo... ORPHA:193
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
3-Methylglutaconic Aciduria Type 9
Failure to thrive, Optic atrophy, Slender build ORPHA:505216
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated alpha-fetoprotein, Head tremor, Mildly elevated creatine kinase, Conjunctival telangiect... ORPHA:95433
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Movement abnormality of the tongue ORPHA:254343
Micro Syndrome
Generalized hirsutism, High palate, Short philtrum, Optic atrophy, Abnormality of retinal pigment... ORPHA:2510
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid... OMIM:131100
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Optic atrophy, Microcornea, Cataract, Oral cleft, Iris coloboma ORPHA:3301
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypopituitarism, Central adrenal insuf... ORPHA:54595
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Tongue fasciculations, Optic atrophy OMIM:614707
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Tremor OMIM:617810
Zellweger Syndrome
High palate, Posterior embryotoxon, Cataract, Corneal opacity, Abnormality of the tongue, Abnorma... ORPHA:912
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Intention tremor, Multiple joint contractures, Optic atrophy ORPHA:504476
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly