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Gene: Ehmt1 MGI:1924933

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Gene Summary

Name:
euchromatic histone methyltransferase 1
Synonyms:
KMT1D,  9230102N17Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased thigmotaxis Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 6.93×10-05
decreased blood urea nitrogen level Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.96×10-07
abnormal retina blood vessel morphology Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 8.16×10-08
increased anxiety-related response Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 2.07×10-05
decreased locomotor activity Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.28×10-09
increased neutrophil cell number Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.75×10-05
increased lean body mass Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 5.75×10-06
decreased circulating creatinine level Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 4.09×10-05
increased grip strength Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.89×10-06
decreased circulating serum albumin level Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 9.75×10-06
abnormal behavior Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 6.97×10-05
irregularly shaped pupil Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.62×10-05
persistence of hyaloid vascular system Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 8.16×10-08
increased circulating LDL cholesterol level Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 7.82×10-08
abnormal iris morphology Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 3.80×10-05
impaired pupillary reflex Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 2.46×10-05
increased circulating cholesterol level Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 2.70×10-05
abnormal retina vasculature morphology Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.62×10-07
abnormal optic disk morphology Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.62×10-07
preweaning lethality, complete penetrance Ehmt1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 2.70×10-05
corneal opacity Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 1.09×10-05
increased mean platelet volume Ehmt1tm1b(EUCOMM)Hmgu HET Early adult 2.84×10-06

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.

Phenotype associated images not available

Human diseases caused by Ehmt1 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.

The table below shows human diseases associated to Ehmt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t... OMIM:610253
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Abnormality of the dentition, Thick lower lip vermilion, Self-injurio... ORPHA:261652
Kleefstra Syndrome Due To 9Q34 Microdeletion
Irritability, Agenesis of corpus callosum, Depression ORPHA:96147

The table below shows human diseases predicted to be associated to Ehmt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Attention deficit hyperactivity disorder, Gait ataxia OMIM:618221
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod... OMIM:609055
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Aggressive behavior, Prominent nose, Dental malocclusion, Abnormal ... OMIM:615541
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotyp... OMIM:309548
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Optic atrophy OMIM:311050
Fraxe Intellectual Disability
Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotyp... ORPHA:100973
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Rubinstein-Taybi Syndrome 2
Hyperactivity, Short stature, Micrognathia, Carious teeth, Prominent nose, Talon cusp, Dental mal... OMIM:613684
Mulibrey Nanism
Wide nose, Short stature, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Thicke... OMIM:253250
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, De... ORPHA:1832
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance ORPHA:2572
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... OMIM:608611
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Alg6-Cdg
Failure to thrive, Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dys... ORPHA:79320
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Chorioretinal coloboma ORPHA:2732
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Short stature, Camptodactyly of finger, Anteverted nares, Depressed nasal ... ORPHA:1327
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Motor neuron atrophy, Frontotemporal dementia, Bradykinesia, Dementia, Fall... ORPHA:412066
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Malar flattening OMIM:616108
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Impulsivity, Tremor, Optic atrophy, Oromandibular dystonia, Depression, Focal dyst... ORPHA:216873
Mcdonough Syndrome
Mandibular prognathia, Short stature, Micrognathia, Open bite, Prominent nose, Underdeveloped nas... ORPHA:2471
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Short stature, Dental crowding, Micrognathia, Oral-pharynge... OMIM:610883
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Anteverted nares, Dental malocclusion, High palate, Mild short stature OMIM:618292
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia, Sensory a... ORPHA:329314
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Decreased nerve... ORPHA:101082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong... OMIM:608931
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance OMIM:616859
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Seckel Syndrome 1
Hyperactivity, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognath... OMIM:210600
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... ORPHA:182050
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... ORPHA:391417
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration,... OMIM:204200
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-... ORPHA:64753
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocy... OMIM:209950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Mucolipidosis Iv
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... OMIM:252650
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... OMIM:144750
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive... OMIM:616267
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy, Depression OMIM:614296
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Macular deg... OMIM:256730
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve... OMIM:600252
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Joint laxity, Short stature, Camptodactyly of finger, Depr... OMIM:612350
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Achilles tendon contractur... OMIM:619719
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition ORPHA:1858
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... ORPHA:507
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Unsteady gait, Cataract, Optic atrophy OMIM:620312
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, High palate, Short philtrum,... ORPHA:251028
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Dental maloc... ORPHA:61
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... OMIM:616050
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Wide na... OMIM:619149
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Thin upper lip vermilion, Wide nose, Exaggerated cupid's bow, Anteverted nares, Nar... OMIM:619293
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... OMIM:602483
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Diastema, Underdeveloped nasal alae, Dental malocclusion, Malar flat... ORPHA:436245
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, High, narrow palate, Dental malocclusion OMIM:619692
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Severe short stature, Short stature, Anteverted n... OMIM:612921
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Hea... OMIM:182290
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Short stature, Micrognathia, Hy... OMIM:257850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Muenke Syndrome
Capitate-hamate fusion, Dental malocclusion, High palate, Attention deficit hyperactivity disorde... OMIM:602849
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Progressive Supranuclear Palsy
Impulsivity, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Bradykinesia, Blep... ORPHA:683
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Short stature, Wide anterior fontanel, Dental malocclusion, Clef... OMIM:608545
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... ORPHA:14
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Optic atrophy, Dysphagia, Cognitive impairment, Dystonia ORPHA:1171
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Osteogenesis Imperfecta, Type Xxii
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Wo... OMIM:619795
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter, Decreased body we... OMIM:618347
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure, Aggressive behavior OMIM:616863
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... ORPHA:228346
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W... ORPHA:2070
Cog4-Cdg
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thr... ORPHA:263501
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... ORPHA:254886
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Short attention span, Compulsive behaviors, Attention deficit hyperacti... ORPHA:444002
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Limb ataxia, Gait ataxia, Dysm... OMIM:615157
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Galactokinase Deficiency
Psychomotor deterioration, Cataract, Small for gestational age, Hepatosplenomegaly, Increased lev... ORPHA:79237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosi... ORPHA:79312
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Optic atrophy, Chorioretinal atrophy, Hepatosplenomegaly, Weight loss, Irritabi... OMIM:619487
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy OMIM:610951
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Depression, Hyperuricemia, Cognitive impairment, Memory impairment... ORPHA:77296
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Irritability, Leu... ORPHA:292
Foxg1 Syndrome
Dystonia, Inability to walk, Abnormal repetitive mannerisms, Bruxism, Choreoathetosis, Difficulty... ORPHA:561854
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cognitive impairment, Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Failure to thrive OMIM:271930
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Myopathy, Myofibrillar, 8
Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, High palate,... OMIM:617258
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Optic atrophy, Depression, Progressive cerebellar ataxia, Dementia ORPHA:411590
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Postnatal growth retardation, Metopic suture patent to nasal root, Premature poste... ORPHA:3369
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Optic atrophy, Abnormal circulating cholesterol concentration, Cogniti... OMIM:270800
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Depression, Hepato... ORPHA:309288
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Concave nasal ridge, Wormian bones, Pathologic fract... ORPHA:166277
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Broad nasal... OMIM:300867
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... OMIM:617183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Progressive neurologic deteriorat... OMIM:300438
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... OMIM:190350
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretinal hypop... OMIM:617303
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... OMIM:613849
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Sarcosinemia
Ataxia, Optic atrophy, Hypersarcosinemia, Hypersarcosinuria, Emotional lability ORPHA:3129
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ... ORPHA:254881
Acrootoocular Syndrome
Delayed eruption of teeth, Short stature, Micrognathia, Grayish enamel, High, narrow palate, Supe... ORPHA:2980
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... OMIM:610967
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Short stature, Dental crowding, Cleft soft palate, Micrognathia, Abnorm... OMIM:616331
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Grant Syndrome
Joint dislocation, Short stature, Depressed nasal bridge, Micrognathia, Open bite, Large fontanel... ORPHA:2097
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait OMIM:619052
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Short stature, Dental crowding, Delayed closure of the a... OMIM:614008
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... ORPHA:1020
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... OMIM:619389
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Impaired social interactions, Attention deficit hyperactivity disorder, Intention tremor ORPHA:137831
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Microcornea, Sel... ORPHA:819
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac... OMIM:612736
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... OMIM:614877
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Coloboma, Lethargy, Failure to thrive OMIM:274270
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary... OMIM:164500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking OMIM:619425
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... OMIM:221900
Young-Onset Parkinson Disease
Short attention span, Restless legs, Impulsivity, Tremor, Depression, Frontal lobe dementia, Brad... ORPHA:2828
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M... ORPHA:2863
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A... ORPHA:290
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Short stature, Dental crowding, Anteverted nares, Pierre-Ro... OMIM:617877
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Corneal opacity, Ataxia, Abnormal pupil morphology, Cornea... ORPHA:1764
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion... OMIM:123450
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Fanconi Anemia, Complementation Group S
Macrodontia, Short stature, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, ... OMIM:617883
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Irritability, Failure to thrive, Optic atrophy OMIM:609056
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Aggressive behavior, Cachexia, Tr... ORPHA:97229
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... OMIM:608104
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Harrod Syndrome
Long nose, Dental malocclusion, Joint hyperflexibility, High palate, Narrow mouth, Intrauterine g... ORPHA:2115
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Carious teeth, Growth delay, Cortical thickening of long bone diaph... ORPHA:93324
Combined Oxidative Phosphorylation Deficiency 37
Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumin... OMIM:618329
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Sialidosis Type 2
Ataxia, Corneal opacity, Tremor, Splenomegaly, Abnormal macular morphology ORPHA:87876
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Joint laxity, ... OMIM:601390
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Optic atrophy, Ataxia OMIM:616737
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... OMIM:254900
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Xfe Progeroid Syndrome
Cachexia, Optic atrophy, Corneal scarring, Hypoalbuminemia, Failure to thrive, Attenuation of ret... OMIM:610965
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Leber Optic Atrophy And Dystonia
Dystonia, Optic atrophy, Bradykinesia, Athetosis, Dementia, Leber optic atrophy, Dysphagia OMIM:500001
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability OMIM:613672
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Osteoporosis-Pseudoglioma Syndrome
Waddling gait, Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative... ORPHA:2788
Winchester Syndrome
Corneal opacity OMIM:277950
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy OMIM:300983
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Hyperactivity, Spina bi... OMIM:234100
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra... OMIM:617854
Merrf
Cognitive impairment, Optic atrophy, Ataxia ORPHA:551
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, Cleft palate, ... ORPHA:3473
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab... ORPHA:2479
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Cystinosis
Corneal opacity, Abnormal repetitive mannerisms, Hypokalemia, Aminoaciduria, Gait disturbance, Hy... ORPHA:213
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Spinocerebellar Ataxia Type 29
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... ORPHA:208513
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo... ORPHA:85321
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Corneal erosion, Dysphagia, Depression, Anemia, Decrease... ORPHA:89842
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Coloboma, Failure to thrive ORPHA:1617
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels OMIM:614504
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Mental deterioration, Lymphopenia OMIM:617575
Short Syndrome
Delayed eruption of teeth, Joint laxity, Micrognathia, Underdeveloped nasal alae, Dental malocclu... OMIM:269880
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Wilson Disease
Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... OMIM:277900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Lethargy... ORPHA:289916
Coffin-Siris Syndrome 6
Short stature, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Deep p... OMIM:617808
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Pycnodysostosis
Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Delayed erupt... OMIM:265800
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Trichinellosis
Facial palsy, Confusion, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irrita... ORPHA:863
Childhood-Onset Spasticity With Hyperglycinemia
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic at... ORPHA:401866
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Ami... ORPHA:812
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Coach Syndrome 2
Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss ... ORPHA:93399
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Severe Canavan Disease
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy ORPHA:314911
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... ORPHA:1667
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Short stature, Dental crowding, Microdontia, Cari... OMIM:269300
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Galloway-Mowat Syndrome 1
Cataract, Ataxia, Small for gestational age, Optic atrophy, Hypoplasia of the iris, Hypoalbuminem... OMIM:251300
3-Methylglutaconic Aciduria, Type I
Short attention span, Ataxia, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia,... OMIM:250950
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Pigmentary retinopathy, Irritability, Dysphagia, Rod-cone dystrophy OMIM:264470
Momo Syndrome
Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Abnorma... ORPHA:2563
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Joint laxity, ... OMIM:615546
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... ORPHA:644
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,... OMIM:101200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Progressive neurologic deterioration, Abnormal retin... ORPHA:247691
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... ORPHA:899
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Joint stiffness, Rhizomelia, Dental malocclusion OMIM:608940
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Pseudobulbar paralysis, Failure to thrive, Attenuation of retinal blood vessels OMIM:617082
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Dementia, Abnormal autonomic nervous sy... ORPHA:329284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... ORPHA:496790
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, C... ORPHA:64743
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... ORPHA:157850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
4H Leukodystrophy
Cataract, Ataxia, Dystonia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Rod-c... OMIM:212065
Alexander Disease
Microcoria, Ataxia, Dysmetria OMIM:203450
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of th... ORPHA:2409
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur... OMIM:265000
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy, Depression OMIM:248000
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Neuhauser Syndrome
Iridodonesis, Ataxia, Hypoplasia of the iris, Dysphagia, Hypercholesterolemia, Megalocornea OMIM:249310
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, Lethargy, Failure to t... ORPHA:26792
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Cach Syndrome
Cataract, Progressive neurologic deterioration, Optic atrophy, Nonketotic hyperglycinemia, Dysmet... ORPHA:135
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short philtrum, High palate, Abnormal repetitive mannerisms... ORPHA:96121
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Disproportion... OMIM:259440
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... OMIM:102500
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Elbow flexion contracture, Dental malocclusion, K... ORPHA:2920
Glycogen Storage Disease Ixa1
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab... ORPHA:457205
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Dysmetria, Astigmatism, Cognitive impairment, Loss of ambulation, Spastic gait OMIM:616680
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva... ORPHA:529808
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva... ORPHA:529799
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Progressive neurologic deterioration, Optic atrophy, Neutropenia, Hype... OMIM:618253
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... ORPHA:352665
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Hamamy Syndrome
Osteopenia, Thin upper lip vermilion, Anteverted nares, Recurrent fractures, Craniosynostosis, Mi... OMIM:611174
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor OMIM:620221
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog... ORPHA:309271
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Small for gestational age, Aggressive behavior, Optic atrophy, Exudative vitreoreti... OMIM:615075
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint hypermobility, Prominent nasal bridge, Oral-pharyngeal dysphagia, Postnata... OMIM:619184
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Anisocoria,... OMIM:231550
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance ORPHA:3151
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Abnormal retinal vascular morphology, Sp... ORPHA:354
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... ORPHA:329178
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Aggressive behavior, Tremor, Dysphagia, Depression, Impaired social interactions, Dystoni... OMIM:619738
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Leukodystrophy, Hypomyelinating, 21
Ataxia, Optic atrophy, Athetosis, Dystonia, Mental deterioration, Failure to thrive OMIM:619310
Cholesteryl Ester Storage Disease
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... ORPHA:2969
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Failure to thrive, Optic atrophy, Dystonia OMIM:618237
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha... OMIM:613680
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... OMIM:259720
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal circulating phytani... ORPHA:247815
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Leuk... ORPHA:27
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Short stature, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Self-in... OMIM:601853
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Intrauterin... OMIM:608747
3-Methylglutaconic Aciduria, Type Iii
Cognitive impairment, Optic atrophy, Ataxia OMIM:258501
Phelan-Mcdermid Syndrome
Micrognathia, Aggressive behavior, Bulbous nose, Tongue thrusting, Dental malocclusion, Bruxism, ... OMIM:606232
Au-Kline Syndrome
Prominent metopic ridge, Wide nasal ridge, Craniosynostosis, Sagittal craniosynostosis, Prominent... OMIM:616580
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... ORPHA:370959
Morquio Syndrome C
Corneal opacity OMIM:252300
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
C3 Glomerulopathy
Drusen, Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/w... ORPHA:329918
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Frank-Ter Haar Syndrome
Osteopenia, Thin upper lip vermilion, Cortical irregularity, Anteverted nares, Depressed nasal br... OMIM:249420
Nephronophthisis 11
Anisocoria, Polydipsia, Anemia, Retinal degeneration OMIM:613550
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Short stature, Selective tooth agenesis, Micrognathia, D... ORPHA:2959
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... OMIM:614298
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short stature, Anteverted nares, Depressed n... OMIM:115150
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion, Velopharyngeal ... ORPHA:363444
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia OMIM:236792
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Emotional lability ORPHA:254343
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Optic atrophy, Athetosis, Irritability, Gait disturbance, Loss of ambulation OMIM:618241
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Ataxia, Corneal opacity, Gait disturbance, Retinopathy ORPHA:578
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi... OMIM:300373
Prune1-Related Neurological Syndrome
Cataract, Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, R... ORPHA:544469
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... OMIM:616294
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Dysostosis, Stanescu Type
Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Short s... ORPHA:1798
Schwartz-Jampel Syndrome
Micrognathia, High palate, Wrist flexion contracture, Pursed lips, Increased bone mineral density... ORPHA:800
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati... ORPHA:79264
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals OMIM:219750
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Confusion, Abscess, Elevated circulating crea... ORPHA:36234
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Pigmentary... ORPHA:216866
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Co... OMIM:612469
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Emotional lability, Memory impairment, Gait disturbance, Lethargy OMIM:603896
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:603776
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardati... ORPHA:73272
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Thrombocytopenia, Optic atrophy, Hepatosp... ORPHA:505248
Muscle-Eye-Brain Disease
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Gait disturbance, Co... ORPHA:588
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide ante... ORPHA:163649
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Choreoathetosis, Bruxism, Retinopathy, Self-m... OMIM:619422
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... OMIM:311070
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Wormi... OMIM:112240
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Anteverted nares, Craniosynostosis, Micrognathia, Hypo... OMIM:182212
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Lim... OMIM:605259
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia OMIM:611209
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Wide... OMIM:614541
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the... ORPHA:3163
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Infantile Refsum Disease
Failure to thrive, Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic a... ORPHA:772
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Craniosynostosis, Postnatal growth retardation, Intrauterine ... OMIM:614732
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Development... ORPHA:93400
Marbach-Rustad Progeroid Syndrome
Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Gro... OMIM:619322
Bardet-Biedl Syndrome 20
Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy... OMIM:619471
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:98755
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic atrophy, Rapi... ORPHA:585
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dementia, Cognitive imp... ORPHA:1947
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, U... OMIM:607115
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Tau... OMIM:157980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytopenia ORPHA:49827
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... ORPHA:91500
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... ORPHA:100924
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... OMIM:616222
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating serine concen... ORPHA:470
Alg12-Cdg
Hyponatremia, Retinal detachment, Abnormal peripheral nervous system morphology, Hypoalbuminemia,... ORPHA:79324
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Elevated... OMIM:615673
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Oligodontia,... OMIM:618727
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Flexio... ORPHA:666
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog... ORPHA:90065
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Dementia, Optic atrophy OMIM:182830
Cerebellofaciodental Syndrome
Short stature, Aggressive behavior, Dental malocclusion, Genu valgum, Taurodontia, Macrodontia of... OMIM:616202
Wilson Disease
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Depre... ORPHA:905
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... OMIM:175780
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:144010
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Dystonia, Hyperalaninemia OMIM:245349
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Congenital hip dislocation, Growth delay, Macroglossia, Wormian bones OMIM:614450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Limb a... OMIM:258450
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Wide nose, Short statu... OMIM:614188
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Short attention span, Exaggerated startle response, Irritability OMIM:617864
Idiopathic Intracranial Hypertension
Papilledema, Obesity, Depression, Abnormal emotion, Lethargy ORPHA:238624
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Wormia... OMIM:601224
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Cataract, Ataxia, Morning glory anomaly, Optic atrophy, Dementia, Gait disturb... ORPHA:98673
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Severe short stature, Abnormal zygomatic bone morphol... ORPHA:2511
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Dysphagia, Gai... OMIM:210000
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... OMIM:617964
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Bradykines... OMIM:601338
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... ORPHA:449291
Sclerosteosis 1
Mandibular prognathia, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusion, Wide nasa... OMIM:269500
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Attention deficit hyperactivity d... ORPHA:1942
Noonan Syndrome 4
Short stature, Depressed nasal bridge, Dental malocclusion, Wide mouth, Thick vermilion border, C... OMIM:610733
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Smal... OMIM:301056
Lissencephaly 8
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Decreased skul... ORPHA:1452
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... OMIM:615145
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston... OMIM:312080
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy, Failure to thrive OMIM:618226
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Failure to thrive OMIM:617954
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Short stature, Antevert... ORPHA:97360
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c... OMIM:223900
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Ataxia, Optic disc pallor, Irritability OMIM:615281
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... OMIM:251880
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cogniti... OMIM:607259
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Fl... OMIM:180849
Robinow Syndrome, Autosomal Dominant 3
Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Short nose, Den... OMIM:616894
Zellweger Syndrome
Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots... ORPHA:912
Revesz Syndrome
Aplastic anemia, Ataxia, Progressive neurologic deterioration, Leukocoria, Exudative retinopathy,... OMIM:268130
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Memory imp... ORPHA:99013
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Weight loss ORPHA:317
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... ORPHA:970
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... OMIM:249270
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Aminoaciduria, Lentiglobus, Co... ORPHA:534
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Anemia, Abnormal cir... OMIM:615838
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia ORPHA:281090
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Dental crowding, Abnormalit... OMIM:618371
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cognitive impairment, Dysp... ORPHA:1177
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retardation,... OMIM:613320
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulating creatine... OMIM:610377
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... OMIM:617166
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Dystonia... ORPHA:401768
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Trismus,... OMIM:227330
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand OMIM:608257
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary r... OMIM:222300
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre... OMIM:618885
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Ata... ORPHA:35069
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup... OMIM:211380
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... OMIM:259600
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... OMIM:614388
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrop... OMIM:612674
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot... OMIM:608643
Cole-Carpenter Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,... ORPHA:2050
Localized Scleroderma
Abnormality of the dentition, Abnormality of the nose, Flexion contracture, Dental malocclusion, ... ORPHA:90289
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Ataxia, Optic atrophy, Athetosis, Decreased body weight, Failure to thrive OMIM:614559
Myopathy, Centronuclear, X-Linked
Flexion contracture, High palate, Dental malocclusion OMIM:310400
Multiple Sulfatase Deficiency
Ataxia, Corneal opacity, Splenomegaly, Rapid neurologic deterioration, Peripheral demyelination, ... OMIM:272200
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma, Failur... ORPHA:163937
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... ORPHA:84064
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Short stature, Depressed nasal bridge, Broad nasal tip, Wid... ORPHA:488437
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume ORPHA:487796
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dys... ORPHA:324737
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Prominent n... ORPHA:357058
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi... ORPHA:2780
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... OMIM:236670
Osteopetrosis, Autosomal Recessive 3
Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, Difficulty walking, Attention deficit ... ORPHA:442835
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Isolated Atp Synthase Deficiency
Cataract, Ataxia, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Rod-cone dystrophy, L... ORPHA:254913
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Wi... ORPHA:73223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration... OMIM:274150
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... OMIM:609033
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Hsd10 Disease, Infantile Type
Restlessness, Dystonia, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, Loss of ambula... ORPHA:391428
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, Large fontanelles, High... OMIM:612940
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Anteverted... ORPHA:444072
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... ORPHA:52368
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia, Mental deteri... OMIM:612319
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa... ORPHA:233
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Anteverted nares, Micrognathia, Multiple prenatal fractures, Flexio... OMIM:616897
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture, Short nose, Hypoplasia of... OMIM:608612
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... OMIM:267750
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Short stature, Narrow nasal ridge, Large fontan... OMIM:219150
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Hypopla... OMIM:214110
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Peripheral demyelination OMIM:616733
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Bulbous nose, Nar... OMIM:618644
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Slender nose, Short stature, Delayed eruption of primary ... OMIM:216400
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia ORPHA:79097
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Dentinogenesis imperfecta, Os... OMIM:614856
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Dysphagia, Failure to thrive OMIM:612379
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivit... ORPHA:353281
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... OMIM:598500
Serotonin Syndrome
Restlessness, Confusion, Tremor, Mental deterioration, Irritability, Agitation, Abnormality of th... ORPHA:43116
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... OMIM:209885
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Retinal dysplasia, Gait disturbance ORPHA:272
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ... ORPHA:289560
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Martin-Probst Syndrome
Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, W... OMIM:300519
Cinca Syndrome
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... ORPHA:1451
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Anisocoria, St... ORPHA:90658
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Triple A Syndrome
Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Convex nasal ridge, Narrow nasal ridge, Micrognathia, Postnatal grow... OMIM:248370
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Ti... OMIM:616364
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... ORPHA:225154
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to thrive OMIM:614739
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Optic disc pallor, Astigmatism OMIM:619328
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom... ORPHA:289157
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Severe short stature, Prominent nasal bridge, Delayed erupti... OMIM:133540
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... OMIM:617710
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Microcephaly, Amish Type
Hypoplasia of the fovea, Irritability, Failure to thrive, Optic atrophy OMIM:607196
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Alg8-Cdg
Hyponatremia, Cataract, Ataxia, Small for gestational age, Thrombocytopenia, Optic atrophy, Failu... ORPHA:79325
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Ab... ORPHA:90674
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Corneal opacity, Small for gestational age, Thrombocytopenia, Hyperlipidemia, ... ORPHA:1830
Developmental And Epileptic Encephalopathy 93
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance OMIM:618012
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Corneal opacity OMIM:166300
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Eosinophilia, R... ORPHA:464
Leigh Syndrome
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Emotional lability, Failure to thrive OMIM:256000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia, Anemia, Corneal opacity ORPHA:79396
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Delayed closure of the anterior fontanelle, Carious teeth, Birth len... OMIM:244460
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short stature, Antever... OMIM:303600
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... OMIM:604757
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... OMIM:608804
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Spondyloenchondrodysplasia
Delayed eruption of teeth, Short stature, Disproportionate short-trunk short stature, Dental malo... ORPHA:1855
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Leukodystrophy, Hypomyelinating, 15
Dystonia, Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Failure to thrive, Int... OMIM:617951
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Abnormality of the dent... OMIM:617952
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Aggressiv... ORPHA:581
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th... OMIM:603585
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress... ORPHA:845
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Increased susc... OMIM:610968
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration,... OMIM:213700
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95717
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroideremia, Anemia, Iris hypopi... ORPHA:2719
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:99014
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Mepan Syndrome
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Gait disturbance, D... ORPHA:508093
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity ORPHA:93476
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... ORPHA:324
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental maloc... OMIM:601552
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... OMIM:614170
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Miller Fisher Syndrome
Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Wormian bones, Intrauter... OMIM:616603
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... OMIM:618975
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Superficial Siderosis
Ataxia, Unsteady gait, Abnormality of the vestibulocochlear nerve, Dysmetria, Anisocoria, Abnorma... ORPHA:247245
Mandibuloacral Dysplasia
Dental crowding, Narrow nose, Micrognathia, Postnatal growth retardation, Abnormal tongue morphol... ORPHA:2457
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis ... ORPHA:2771
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal ulceration, Abnormal auto... OMIM:256800
Angelman Syndrome
Keratoconus, Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tre... ORPHA:72
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... OMIM:614643
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Progressive psychomotor deterioration, Optic atrophy, Progressive cer... ORPHA:263516
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... OMIM:616959
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Corneal opacity, Short attention... ORPHA:580
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... OMIM:619260
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Ataxia, Aggressive behavior, Optic atrophy, Irritability, Self-inju... OMIM:619833
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Dystonia, Ataxia, Akinesia, Acanthocytosis, Tremor, Optic atrophy, Pho... OMIM:234200
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chorioretinal coloboma, Peters an... ORPHA:494344
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Macular degeneration, Abnormal conjunctiva... ORPHA:333
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation OMIM:607694
Krabbe Disease
Failure to thrive, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atroph... OMIM:245200
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Antley-Bixler Syndrome
Anteverted nares, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness... ORPHA:83
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Trem... ORPHA:646
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... OMIM:619383
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Dysphagia OMIM:619527
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... OMIM:619055
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... ORPHA:401777
Faciocardiomelic Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mou... OMIM:612731
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bri... ORPHA:364577
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... ORPHA:562
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Leukopenia, Hy... ORPHA:2298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper lip, Hypoplasia ... OMIM:610829
48,Xxxy Syndrome
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorma... ORPHA:96263
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Wide nasal bridge, Metopic synostosis, Camptodactyly of toe, Umbilical hernia, ... OMIM:175700
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge OMIM:615560
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... OMIM:617282
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma, ... OMIM:252600
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatosplenomegaly, Depression, Weight los... ORPHA:171
Parietal Foramina 1
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Postnatal growth retardation, Carious teeth, Growth ... ORPHA:93325
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Menkes Disease
Joint laxity, Short stature, Osteoporosis, Wormian bones, Intrauterine growth retardation OMIM:309400
Tangier Disease
Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosple... ORPHA:31150
Meningococcal Meningitis
Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, Irritability, Lethargy ORPHA:33475
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Arachnoid Cyst
Facial palsy, Inability to walk, Cranial nerve compression, Depression, Social and occupational d... ORPHA:2356
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Failure to thrive, Corneal dystrophy ORPHA:52
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to t... OMIM:614702
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... ORPHA:85184
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Pigmentary retin... ORPHA:502423
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor OMIM:618688
Alagille Syndrome 1
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Failure to thrive, Band keratopathy, Chori... OMIM:118450
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... ORPHA:95433
Brachydactyly, Type B1
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Camptodactyly, Joi... OMIM:113000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Silver-Russell Syndrome 1
Downturned corners of mouth, Intrauterine growth retardation, Delayed cranial suture closure, Mic... OMIM:180860
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Mohr Syndrome
Median cleft lip, Short stature, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, H... OMIM:252100
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Hip dislocatio... ORPHA:2484
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610217
Gm1-Gangliosidosis, Type Iii
Ataxia, Opacification of the corneal stroma, Dystonia OMIM:230650
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... OMIM:119600
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short stature, Anteverted nares, Depressed nasal bridge, Macroglossia, Severe postnatal growth re... OMIM:613038
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Delirium, Re... ORPHA:79282
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Developmental cataract, Vit... OMIM:620185
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape ORPHA:45358
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral d... OMIM:166220
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Tooth agenesis, De... OMIM:616229
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Wildervanck Syndrome
Meningocele ORPHA:3456
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Optic atrophy, Ataxia, Cataract ORPHA:559
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... ORPHA:254930
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Ataxia, Tremor, Optic atrophy, Uveitis, Anemia, Pi... ORPHA:90321
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... ORPHA:79240
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Progress... ORPHA:2131
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, ... ORPHA:275761
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Infant Botulism
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis ORPHA:178478
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Severe short stature,... OMIM:231070
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... OMIM:618249
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Polydipsia, Retinal dystrophy, Anemia OMIM:266900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation, Alpha-... OMIM:620089
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Cataract, Small for gestational age, Dysmetria, De... OMIM:606721
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Optic atrophy, Obesity OMIM:614651
Ulna Hypoplasia-Intellectual Disability Syndrome
Severe short stature, Joint stiffness, Elbow dislocation, Large fontanelles, Delayed cranial sutu... ORPHA:2249
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating creatine kinase concentration, Elevated circulating long chain fat... OMIM:608836
Gaucher Disease
Pancytopenia, Corneal opacity, Ataxia, Elevated circulating C-reactive protein concentration, Tre... ORPHA:355
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... OMIM:611490
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Persistence of primary teeth, B... OMIM:300166
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... OMIM:613150
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Corneal opacity, Small for gestational age, Astigmatism, G... ORPHA:464311
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen... OMIM:613154
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... ORPHA:98768
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Short attention sp... ORPHA:309282
Neuronal Intranuclear Inclusion Disease
Dementia, Optic atrophy, Ataxia ORPHA:2289
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Dysphagia, Progressive cerebellar ataxia, Dystonia, Mental deterioration OMIM:618868
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... ORPHA:3226
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Short stature, Ant... OMIM:607812
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia ORPHA:2801
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Wide nose, Micrognathia, Joint stiffness, Prominent nose, Long nose, Lar... ORPHA:2995
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Smith-Lemli-Opitz Syndrome
Hyperactivity, Cataract, Aganglionic megacolon, Aggressive behavior, Splenomegaly, Hypoalbuminemi... OMIM:270400
Humero-Radial Synostosis
Meningocele ORPHA:3265
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fractures, Large fontanel... OMIM:166210
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae OMIM:615877
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, Postnatal growth retar... ORPHA:276432
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... OMIM:615273
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atrop... OMIM:251900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hurler Syndrome
Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Hepatosplenomegaly, Opacific... OMIM:607014
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... OMIM:164400
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Craniosynostosis 4
Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... OMIM:600775
Jaberi-Elahi Syndrome
Broad-based gait, Cataract, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cho... OMIM:617988
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Dementia, Optic atrophy, Ataxia ORPHA:1173
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Mental de... OMIM:250100
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Aminoacidur... OMIM:214100
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Ataxia, Optic atrophy, Depression, Head tremor, Mental deterioration, M... ORPHA:314404
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve... ORPHA:1187
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... OMIM:616602
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Fibrochondrogenesis 1
Rhizomelia, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Cleft palate, Widel... OMIM:228520
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Amin... ORPHA:411634
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Silver-Russell Syndrome
Short stature, Dental crowding, Micrognathia, Postnatal growth retardation, Downturned corners of... ORPHA:813
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Orthostatic hypotension, Abnormal circulating lipid concentration,... ORPHA:186
Friedreich Ataxia
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... ORPHA:95
Trisomy 10P
Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the ... ORPHA:171929
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... OMIM:610915
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ataxia, Chronic myelogenous leuke... ORPHA:636
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Ataxia, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Gait disturbance... ORPHA:395
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... OMIM:609541
Steinert Myotonic Dystrophy
Short attention span, Peripheral axonal neuropathy, Oral-pharyngeal dysphagia, Aggressive behavio... ORPHA:273
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Oligomeganephronia
Small for gestational age, Polydipsia, Optic disc coloboma, Elevated circulating creatinine conce... ORPHA:2260
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Short stature, Choa... OMIM:151050
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Dental crowding, Joint hypermobility, Micrognathia, Meningocele,... OMIM:130720
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Short stature, Delayed closure... ORPHA:2962
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Recurrent fractures, Prominent nasal bridge... OMIM:601812
Distal Deletion 13Q
Optic atrophy, Iris coloboma, Cognitive impairment ORPHA:1590
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Stt3B-Cdg
Failure to thrive, Optic atrophy, Thrombocytopenia ORPHA:370924
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu... ORPHA:36238
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Cataract, Small for gestational age, Conjugated hyperbilirubinemia, Brushfield... OMIM:614866
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy OMIM:258700
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Tru... OMIM:619259
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Aminoaciduria, Hypoka... ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis OMIM:613559
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Confusion, Anisocoria... ORPHA:79138
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... OMIM:614381
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Optic atrophy, Mental deterioration, Depression, Progressive gait ataxia, F... ORPHA:329308
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Optic atrophy, Hypochromic microcytic anemia, Normochromi... ORPHA:66634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Cognitive ... ORPHA:79259
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Postnatal gr... ORPHA:191
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia OMIM:180200
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat... OMIM:603457
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension, Ataxia, Dysphagia OMIM:615510
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Microdontia, Joint laxity, Short stature, Anteverted nares, Depr... OMIM:194050
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... OMIM:300972
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Coloboma, Corneal opacity OMIM:163200
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Failure to thrive, Facial palsy, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyp... OMIM:259700
Hurler Syndrome
Corneal opacity, Splenomegaly, Depression, Abnormal nerve conduction velocity, Retinopathy ORPHA:93473
Gm1-Gangliosidosis, Type Ii
Ataxia, Splenomegaly, Optic atrophy, Progressive psychomotor deterioration, Gait disturbance, Sea... OMIM:230600
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria, Cognitive impairment ORPHA:1556
Iatrogenic Botulism
Orthostatic hypotension, Dysphagia, Mydriasis ORPHA:254509
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Williams Syndrome
Osteopenia, Micrognathia, Compulsive behaviors, Microdontia, Spina bifida occulta, Joint laxity, ... ORPHA:904
Monosomy 22Q13.3
Hyperactivity, Dental crowding, Hair-pulling, Bulbous nose, Dental malocclusion, Wide nasal bridg... ORPHA:48652
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Carpenter Syndrome 2
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Carious teeth, High, narrow palate, D... OMIM:614976
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95716
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Small for gestational age, Developmental cataract, Retin... OMIM:127000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Birk-Landau-Perez Syndrome
Dystonia, Failure to thrive in infancy, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis... OMIM:617595
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... ORPHA:239
Intestinal Botulism
Dysphagia, Mydriasis ORPHA:178481
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p... ORPHA:2789
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig... ORPHA:1302
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Attention... OMIM:618223
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Toxin-Mediated Infectious Botulism
Dysphagia, Mydriasis ORPHA:230800
Tenorio Syndrome
Mandibular prognathia, Osteopenia, Joint laxity, Wide nose, Anteverted nares, Wide mouth, Macrogl... OMIM:616260
Fg Syndrome Type 1
Abnormal social behavior, Broad-based gait, Compulsive behaviors, Attention deficit hyperactivity... ORPHA:93932
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Abnormal dental morphology, Tarsal synostosis, Abnormal dental enamel... ORPHA:85199
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... ORPHA:955
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen... ORPHA:2072
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Inability to walk, Splenomegaly, Optic atrophy, Aminoaciduria... OMIM:617913
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Rhizomelia, Thin bony cortex OMIM:619638
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Depressed nasal bridge, Craniosynostosis, Micrognathia,... ORPHA:235
Mucopolysaccharidosis Type 1
Retinopathy, Splenomegaly, Optic atrophy, Corneal opacity ORPHA:579
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirub... OMIM:613658
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Failure to thrive, Small for gestational age, Inabili... ORPHA:404454
Gapo Syndrome
Anteverted nares, Joint hypermobility, Delayed closure of the anterior fontanelle, Micrognathia, ... OMIM:230740
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Corneal opacity, Small for gestational age, Astigmatism, Gait d... ORPHA:464306
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Sanjad-Sakati Syndrome
Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism ORPHA:2323
Biotinidase Deficiency
Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Conjunctivitis, Lethargy OMIM:253260
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Pituitary Apoplexy
Hyponatremia, Confusion, Increased circulating cortisol level, Normochromic anemia, Mydriasis ORPHA:95613
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Optic atrophy, Mental deterioration, Inappropriate laughter, Difficulty walking, Hypocalc... OMIM:618476
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Aggressive behavior... ORPHA:495875
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia OMIM:268800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Cerebral Visual Impairment
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... ORPHA:447788
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Cataract, Tremor, Inability to walk, Development... ORPHA:99956
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... ORPHA:2715
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Thin upper lip vermilion, Severe short stature, Severe generalized osteoporosis,... OMIM:210730
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Liver abscess, Obesity ORPHA:69663
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Cognitive impair... ORPHA:2092
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Elevated c... OMIM:616878
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... OMIM:614077
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Severe short stature, Abnormal dental enam... ORPHA:2658
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphol... OMIM:242900
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ... OMIM:256540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo... OMIM:618775
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... OMIM:612582
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature, Wormian bones, Join... OMIM:619131
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Abnormality of the dentition, Flexion contracture, Large fontanelles, Limitation o... ORPHA:90153
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Short attention span, Corneal opacity, Abnormal... ORPHA:217093
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Flexion contracture, Hi... OMIM:300232
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper li... OMIM:219000
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Short stature, Depressed nasal bridge, Craniosynostosis, Promine... ORPHA:794
Osteogenesis Imperfecta, Type Vii
Osteopenia, Wide cranial sutures, Short stature, Protrusio acetabuli, Rhizomelia, Recurrent fract... OMIM:610682
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Wound Botulism
Dysphagia, Mydriasis ORPHA:178475
Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity ORPHA:93474
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Anemia, Increased blood u... ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Focal Dermal Hypoplasia
Delayed eruption of teeth, Joint laxity, Narrow nasal bridge, Congenital hip dislocation, Short s... OMIM:305600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Lethargy, Megalocornea, Failure to thrive, Congenital aphakia ORPHA:137675
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... ORPHA:217085
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Optic atrophy, Depression, Dementia, Memory impairment OMIM:604121
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... ORPHA:49041
Cerebrotendinous Xanthomatosis
Axonal degeneration, Progressive psychomotor deterioration, Juvenile cataract, Ataxia, Depression... ORPHA:909
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Wrinkly Skin Syndrome
Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Congenital hip dislocation, Short ... OMIM:278250
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Osteopenia, Limitation of joint mobility, Large fontanelles, Osteoporosis, Osteolyti... OMIM:259100
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Noonan Syndrome 1
Short stature, Micrognathia, Postnatal growth retardation, High, narrow palate, Dental malocclusi... OMIM:163950
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Dislocated radial head, Joint laxity, ... OMIM:268310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Gait disturbance, Failure to thrive... ORPHA:436271
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Aymé-Gripp Syndrome
Thin upper lip vermilion, Prominent metopic ridge, Short stature, Depressed nasal bridge, Cranios... ORPHA:1272
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Failure to thrive, Thrombo... OMIM:251290
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Abnormal circulating lipid concentration, Corneal opacity, Cognitive impairment ORPHA:488632
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Dpagt1-Cdg
Failure to thrive, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atroph... ORPHA:86309
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Obesity, Aniridia, Iris coloboma ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... OMIM:253800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Prader-Willi Syndrome Due To Translocation
Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Compulsive behaviors, Atten... ORPHA:177907
Wrinkly Skin Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Short stature, Delayed closure... ORPHA:2834
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Gait disturbance ORPHA:582
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Botulism
Dysphagia, Mydriasis ORPHA:1267
Facial Spasm
Anisocoria OMIM:134300
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Retinitis Pigmentosa 74
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Ayme-Gripp Syndrome
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Short stature, Depressed nasal ... OMIM:601088
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Short stature, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Postnatal gr... OMIM:619127
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Deep philtrum, Short philtr... OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Foodborne Botulism
Dysphagia, Mydriasis ORPHA:228371
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Delayed cranial suture closure, Micrognathia ORPHA:1129
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thicknes... ORPHA:293967
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... ORPHA:425
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Fraser Syndrome
Encephalocele, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper lip, Underdev... ORPHA:2052
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Mucopolysaccharidosis, Type Ivb
Ataxia, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Ataxia, Tremor, Bradykinesia, Abnormal autonomic nervous s... OMIM:146500
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma ORPHA:3301
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Cdags Syndrome
Sagittal craniosynostosis, Large fontanelles, Cleft palate, Lambdoidal craniosynostosis, Malar fl... OMIM:603116
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Tremor, Agitation, Mania, Delirium, Mydriasis ORPHA:90068
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo... OMIM:610505
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal... OMIM:219800
Hennekam-Beemer Syndrome
Wide nose, Short stature, Camptodactyly of finger, Micrognathia, Long nose, Thick lower lip vermi... ORPHA:2135
Carpenter Syndrome 1
Optic atrophy, Obesity, Microcornea, Polysplenia, Opacification of the corneal stroma OMIM:201000
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Oculodentodigital Dysplasia
Cataract, Ataxia, Optic atrophy, Abnormality iris morphology, Microcornea, Gait disturbance ORPHA:2710
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Enlarged peripheral nerve, Hyperch... OMIM:151660
Immunodeficiency 49
Natal tooth, Micrognathia, Short philtrum, Wormian bones, Umbilical hernia OMIM:617237
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Dysphagia OMIM:617527
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Biotinidase Deficiency
Ataxia, Optic neuropathy, Optic atrophy, Hyperammonemia, Conjunctivitis, Lethargy ORPHA:79241
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emoti... ORPHA:428
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... ORPHA:141099
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tre... OMIM:615512
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... OMIM:615688
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Optic atrophy, Optic neuropathy, Depression OMIM:604928
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Xeroderma Pigmentosum, Complementation Group B
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy OMIM:610651
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Dental ... OMIM:613795
Hemorrhagic Fever-Renal Syndrome
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... ORPHA:340
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Pr... ORPHA:90324
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Cataract, Sclerocornea OMIM:614230
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Optic atrophy, Aminoaciduria, Opacifica... ORPHA:910
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Glossoptosis, Short philtrum, High palat... OMIM:602535
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg... ORPHA:536471
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Anteverted nares, Depressed nasal bridge... OMIM:312870
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati... OMIM:308300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Smooth philtrum, Depressed nasal bridge, Craniosynostosis, Micrognathia, Depressed nasal tip, Sev... OMIM:620005
Fucosidosis
Failure to thrive, Corneal opacity ORPHA:349
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Retinal dystrophy, Chorioretinal dysplasi... ORPHA:2556
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Broad-based gait, Cataract, Aganglionic megacolon, Asplenia, Inability to walk, Abn... ORPHA:261552
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Anteverted nares, Depressed nas... OMIM:269150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Al-Gazali Syndrome
Failure to thrive, Corneal opacity, Sclerocornea OMIM:609465
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Anteverted nares, Recurrent fractures, Depressed nasal bridge, ... OMIM:618188
Halperin-Birk Syndrome
Inability to walk, Optic atrophy, Developmental cataract, Pseudobulbar paralysis, Failure to thrive OMIM:618651
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Encephalocraniocutaneous Lipomatosis
Retinopathy, Iris coloboma, Corneal opacity ORPHA:2396
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Optic atr... OMIM:614947
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Adult-Onset Still Disease
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:829
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Chime Syndrome
Retinal coloboma, Acute leukemia, Corneal opacity ORPHA:3474
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Hypokalemia, Increas... ORPHA:466677
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma... ORPHA:255210
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
De Sanctis-Cacchione Syndrome
Ataxia, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis, Conjunctivi... OMIM:278800
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor ORPHA:363618
Alg9-Cdg
Microretrognathia, Smooth philtrum, Prominent metopic ridge, Thin upper lip vermilion, Rhizomelia... ORPHA:79328
Smith-Lemli-Opitz Syndrome
Cataract, Aganglionic megacolon, Sclerocornea, Optic atrophy, Self-injurious behavior, Elevated c... ORPHA:818
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Obesity OMIM:612291
Meckel Syndrome
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Asplenia, Optic atro... ORPHA:564
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma ORPHA:3453
Leptospirosis
Papilledema, Anorexia, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperproteinemia, Optic neur... ORPHA:509
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma OMIM:309801
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Osteoporosis, Abnormal palat... ORPHA:565
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma OMIM:206900
Inhalational Botulism
Mydriasis ORPHA:254504
Mucopolysaccharidosis Type 6
Cognitive impairment, Splenomegaly, Failure to thrive, Opacification of the corneal stroma ORPHA:583
Moebius Syndrome
Corneal opacity, Facial palsy, Dysphagia ORPHA:570
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Facial palsy, Anorexia, Tr... ORPHA:79139
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Lathosterolosis
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... ORPHA:46059
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Wolf-Hirschhorn Syndrome
Ataxia, Sclerocornea, Optic atrophy, Megalocornea, Failure to thrive, Retinopathy, Iris coloboma ORPHA:280
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cer... ORPHA:67036
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Sifrim-Hitz-Weiss Syndrome
Short stature, Flat acetabular roof, Fused cervical vertebrae, Wormian bones, Bifid uvula OMIM:617159
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Dysplastic corpus callosum, Exaggerated startle response OMIM:617281
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Small for gestational age, Ectopia pupillae, Failure to thrive,... OMIM:194190
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... OMIM:259900
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anorexia, Ectopia lentis, Opti... ORPHA:394
Occipital Horn Syndrome
Osteopenia, Osteomalacia, High, narrow palate, Large fontanelles, Hip dislocation, Dysphagia, Gen... ORPHA:198
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... OMIM:309350
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ... ORPHA:2785
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:274000
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Fryns Syndrome
Aganglionic megacolon, Corneal opacity ORPHA:2059
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... OMIM:617099
Wiedemann-Rautenstrauch Syndrome
Cataract, Optic disc hypoplasia, Hypertriglyceridemia, Corneal opacity, Ataxia, Confusion, Tremor... ORPHA:3455
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Oculoectodermal Syndrome
Hyperactivity, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stro... OMIM:600268
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t... OMIM:610253
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Short stature, Premature osteoarthritis, Large fontanelles, Umbilical h... OMIM:611962
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Short philtrum, High palate, Choanal stenosis, Wide ant... ORPHA:798
Wolfram Syndrome
Ataxia, Optic atrophy, Dementia, Abnormal autonomic nervous system physiology, Polydipsia, Anemia ORPHA:3463
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Lateral ventricle dilatation, Exaggerated startle response, Dysphagia OMIM:618367
D-Bifunctional Protein Deficiency
Osteopenia, Depressed nasal bridge, Micrognathia, Large fontanelles, High palate, Long philtrum, ... OMIM:261515
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Failure to thrive OMIM:619869
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia ORPHA:75565
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Saethre-Chotzen Syndrome
Short stature, Narrow nose, Hypoplasia of the maxilla, Long nose, Cleft of chin, Narrow palate, C... OMIM:101400
Coffin-Siris Syndrome 12
Joint laxity, Short stature, Prominent nasal bridge, Anteverted nares, Micrognathia, Depressed na... OMIM:619325
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Pmm2-Cdg
Failure to thrive, Cataract, Ataxia, Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired... ORPHA:79318
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Witteveen-Kolk Syndrome
Hyperactivity, Cataract, Small for gestational age, Aggressive behavior, Obesity, Anisocoria, Att... OMIM:613406
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... OMIM:612852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Optic nerve dysplasia, Retinal dysplasia, Elevated circulati... OMIM:615287
African Trypanosomiasis
Papilledema, Akinesia, Aggressive behavior, Keratitis, Splenomegaly, Tremor, Hepatosplenomegaly, ... ORPHA:3385
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colo... OMIM:235730
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Curry-Jones Syndrome
Lip pit, Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital meningocele, Bicor... OMIM:601707
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Failure to thrive,... ORPHA:416
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Cardiogenic Shock
Elevated circulating creatinine concentration, Confusion ORPHA:97292
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Optic atrophy OMIM:201180
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormian bones, Joint... OMIM:617821
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cataract, Corneal opacity ORPHA:1052
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Abdominal obesity, Azotemia OMIM:619321
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short stature, Elbow contracture, Delayed closure of the anterior fon... OMIM:304120
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Anorexia, Confusi... ORPHA:99827
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Depressed nasal ridge, Large fontanelles, Wide nasal bridge, Exencephaly, Long phi... ORPHA:2211
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Yunis-Varon Syndrome
Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Short stature, Anteverted n... ORPHA:3472
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Joint subluxation, I... ORPHA:90349
Peters Plus Syndrome
Cataract, Corneal opacity, Optic atrophy, Microcornea, Peters anomaly, Iris coloboma, Anterior ch... ORPHA:709
Pineoblastoma
Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... ORPHA:251909
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia OMIM:612301
Diamond-Blackfan Anemia 1
Short stature, Micrognathia, Cleft upper lip, Depressed nasal ridge, Spina bifida occulta, Cleft ... OMIM:105650
Kindler Epidermolysis Bullosa
Anemia, Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy OMIM:260920
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... ORPHA:363958
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunc... ORPHA:2273
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Thin upper lip vermilion, Joint laxity, Generalized joint l... OMIM:601776
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Depressed nasal ridge, Poorly o... ORPHA:3003
Plague
Anorexia, Splenomegaly, Unsteady gait, Depression, Conjunctival hyperemia, Delirium, Mydriasis ORPHA:707
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Tip-toe gait, Opacification of the corneal str... OMIM:252500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Postnatal growth retardation, Hip dislocation, Wormian... ORPHA:90348
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Short stature, Anteverted nares, Tracheomalacia, Micrognathia, Downturn... ORPHA:444077
Mucopolysaccharidosis, Type Iva
Waddling gait, Opacification of the corneal stroma OMIM:253000
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... OMIM:259770
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Pituitary dwarfism, Depressed nasal bridge, Delayed proximal femoral ... ORPHA:226307
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Sclerocornea OMIM:300952
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Abnormality of the dentition, Thick lower lip vermilion, Self-injurio... ORPHA:261652
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Depressed nasal bridge, Joint stiffness, Narrow mouth, Po... ORPHA:1606
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia ORPHA:293173
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Trichothiodystrophy
Intention tremor, Partial agenesis of the corpus callosum, Reduced social reciprocity, Gait ataxia ORPHA:33364
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Obesity, Hypoplasia of the thymus, Hypocalcemia, At... OMIM:188400
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Tip-toe gait, Astigmatism, Self-mutilation OMIM:619268
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Decreased body weight OMIM:266270
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Pagod Syndrome
Encephalocele, Meningocele, Short stature, Spina bifida ORPHA:991
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Larsen Syndrome
Corneal opacity OMIM:150250
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypokalemia, Cognitive impairment, Abnormal pupil morphology ORPHA:286
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Stuve-Wiedemann Syndrome 1
Abnormal autonomic nervous system physiology, Opacification of the corneal stroma, Dysphagia OMIM:601559
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the dentition, Elbow dislocation, Osteoarthritis, Abnormality o... ORPHA:285
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Failure to thrive, Corneal opacity OMIM:608670
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Weight loss, Shuffling gait, Severe failure to thrive, Corneal ulceration ORPHA:740
Fibular Hemimelia
Spina bifida ORPHA:93323
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Short philtrum, High palate, Decreased skull ossificati... OMIM:216340
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Small for gestational age, Ectopia lentis ORPHA:284979
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Microphthalmia, Syndromic 6
Retinal dystrophy, Sclerocornea, Microcornea, Coloboma, Failure to thrive OMIM:607932
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Jacobsen Syndrome
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:2308
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Iris atrophy, Decreased circulating cortisol level OMIM:620305
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he... ORPHA:567
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ... OMIM:256520
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r... ORPHA:84
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Campto... OMIM:601803
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma OMIM:268300
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... OMIM:114290
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dysphagia, Dystonia, Stereotyp... ORPHA:438213
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Fryns Syndrome
Polysplenia, Aganglionic megacolon, Opacification of the corneal stroma, Large for gestational age OMIM:229850
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine... OMIM:192350
Medulloblastoma
Delayed cranial suture closure ORPHA:616
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Marfan Syndrome
Meningocele ORPHA:558
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Kleefstra Syndrome Due To 9Q34 Microdeletion
Irritability, Agenesis of corpus callosum, Depression ORPHA:96147
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions... OMIM:308205
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820

Histopathology

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

There is no histopathology data for Ehmt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ehmt1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
NRSF/REST lies at the intersection between epigenetic regulation, miRNA-mediated gene control and neurodevelopmental pathways associated with Intellectual disability (ID) and Schizophrenia. Translational psychiatry (October 2022) Ehmt1tm1a(EUCOMM)Hmgu PMC9551101
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ehmt1tm1b(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ehmt1tm1b(EUCOMM)Wtsi Ehmt1tm1b(EUCOMM)Wtsi PMC6671969

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ehmt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ehmt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ehmt1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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