Gene Summary

euchromatic histone methyltransferase 1
KMT1D,  9230102N17Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Frontotemporal cerebral atrophy, Dementia, Inappropriate behavior, Motor deterioration, Abnormal ... ORPHA:412066
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness OMIM:618221
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Ataxia, Psychomotor deterioration OMIM:609055
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Peripheral axonal degeneration, Decreased number of large peripheral myelinat... OMIM:208920
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Short stature, Dental malocclusion OMIM:616108
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Short stature, Worm... OMIM:265800
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability, Spastic ataxia OMIM:613672
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Anxiety, Depression OMIM:614296
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular... OMIM:614669
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Mulibrey Nanism
Hypodontia, Intrauterine growth retardation, Growth delay, Short stature, Hypoplastic frontal sin... OMIM:253250
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Dementia, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Catara... OMIM:204200
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Fatigable weakness, Tremor, Inability to w... ORPHA:255
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Gait disturbance, Corneal dystrophy, Spastic ataxia, Ataxia ORPHA:2572
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Thickened calvaria, Dental crowding, Short stature, Long philtrum, Cleft soft palat... OMIM:616331
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of D-threitol in plasma, Ataxia, Elevated circulating ribitol conc... OMIM:608611
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Ataxia, Hypoalbuminemia, Decreased L... ORPHA:79320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Corneal opacity, Cherry red spot of the macula ORPHA:351
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Gait disturbance, Violent behavior, Inertia, Oromandibular dystonia, Cognitive imp... ORPHA:216873
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Delayed cranial suture c... ORPHA:763
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Intrauterine growth retardation, Open bite, Brachycephaly, Mandibular prognathia, Sh... ORPHA:1327
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Short stature, Osteoporosis, Malar flattening, Wor... OMIM:613849
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Elevated circulating creatine kinase con... ORPHA:101082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Mucolipidosis Iv
Dystonia, Optic atrophy, Retinal degeneration, Progressive neurologic deterioration, Corneal opac... OMIM:252650
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental maloccl... OMIM:608931
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Chorioretinal coloboma ORPHA:2732
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Dysmetria, Orthostatic hypotension, Hypercholesterolemia, Hypertriglyceri... OMIM:606721
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... ORPHA:182050
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Fechtner syndrome
Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets,... OMIM:153640
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dementia, Cognitive impairment, Sensory axonal neuropathy, Ataxia, Cataract, Depre... ORPHA:329314
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Intrauterine growth retardation, Large fontanelles, Median cleft lip and palate, Ma... ORPHA:1832
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... ORPHA:96369
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Cataract, Broad-based gait, Hypoalbuminemia OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Difficulty walking OMIM:617087
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Inability to walk OMIM:615658
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... OMIM:613684
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal ... OMIM:310600
Mcdonough Syndrome
Abnormal palate morphology, Micrognathia, Short philtrum, Open bite, Short stature, Mandibular pr... ORPHA:2471
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Aggressive behavior, Chorioretinal dysplasia, Ch... OMIM:152950
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Dystonia, Punctate periventricular T2 hyperintense foci, ... ORPHA:309246
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Spastic ataxia, Gait disturbance, Hyperglycinemia OMIM:616859
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Basal ganglia gliosis, Unsteady gait, Anxiety, Depression OMIM:603218
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Short stature, Joint contracture of the hand, Dislocated radial head, Os... OMIM:612350
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Optic atrophy, Mental deterioration, Retinal dystrophy OMIM:614706
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Short stature, Dental malocclusion ORPHA:1858
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt... OMIM:602483
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Short stature, Mandibular prognathia, Malar flattening, Widely patent fontanelles and sutures, Ev... OMIM:603463
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation, Microdontia OMIM:233810
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Potocki-Lupski Syndrome
Micrognathia, High palate, Smooth philtrum, Wide mouth, Short stature, Trigonocephaly, Mandibular... OMIM:610883
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk OMIM:618572
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... OMIM:616050
Larsen-Like Syndrome
Cleft palate, Short stature, Brachycephaly, Joint dislocation, Malar flattening, Frontal bossing,... OMIM:608545
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal lower motor neuron morphology, Abnormal cerebral ... ORPHA:100070
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... OMIM:209950
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Three M Syndrome 2
High palate, Intrauterine growth retardation, Short stature, Long philtrum, Malar flattening, Del... OMIM:612921
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Muenke Syndrome
Plagiocephaly, High palate, Capitate-hamate fusion, Brachycephaly, Malar flattening, Dental maloc... OMIM:602849
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth OMIM:600252
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Widely spaced teeth, Open bite, Macroglossia, Mandibular prognathia, Gingival overgrowth, Arthrit... ORPHA:61
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Gait ataxia, Inappropriate laughter, Inappropriate crying OMIM:619323
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Seckel Syndrome 1
Small anterior fontanelle, Micrognathia, Cleft palate, Intrauterine growth retardation, High pala... OMIM:210600
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Hy... ORPHA:444002
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... OMIM:603553
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Retinal detachment, Hypertriglyceridemia, H... OMIM:182290
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Large fontanelles, Brachycephal... OMIM:257850
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Short stature, Mandibular prognathia, Reduced bone mineral density, Abnor... ORPHA:3079
Optic Atrophy 5
Optic atrophy OMIM:610708
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Rod-cone dystrophy, Hypotriglyceridemia, Steatorrhea, Abnormality of retinal pigmentation, Decrea... ORPHA:14
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Short Syndrome
Micrognathia, Hypodontia, Intrauterine growth retardation, Birth length less than 3rd percentile,... OMIM:269880
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Self-mutilation, Anemia, Hepatosplenomeg... OMIM:619487
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Ataxia, Irritability, Psychomotor dete... OMIM:256730
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Retinal detachment, Corneal opacity, Cataract... OMIM:613153
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... ORPHA:507
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Hyperuricemia, Hypercholesterolemia, Action tremor, Obes... ORPHA:77296
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hy... ORPHA:64753
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... ORPHA:292
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Basal ganglia calcification, Anxiety, Depression OMIM:615483
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Grant Syndrome
Abnormal palate morphology, Micrognathia, Large fontanelles, Brachycephaly, Open bite, Short stat... ORPHA:2097
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Abnormality of the knee, Pierre-Robin sequence, Postnatal growth retardation, Agene... ORPHA:251028
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synaptic transmis... ORPHA:683
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Chorioretinal hypopigmentation, Ina... OMIM:617303
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Ataxia, Anxiety, Depression, Difficulty walking OMIM:619425
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Short stature, Wormian bones, Osteopenia, Joint hypermob... OMIM:610967
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Optic atrophy, Ataxia OMIM:616881
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Short stature, Malar flattening, Dental malocclusion ORPHA:436245
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Neurofibrillary tan... ORPHA:1020
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Wormian bones, Abnormal cortical bone morphology, Pathologic fracture, Dentinogene... ORPHA:166277
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Dec... ORPHA:247598
Gómez-López-Hernández Syndrome
Ataxia, Cognitive impairment, Corneal opacity ORPHA:1532
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Intention tremor, Dysdiado... ORPHA:98890
Myopathy, Myofibrillar, 8
Dysphagia, Micrognathia, High palate, Impaired mastication, Achilles tendon contracture, Joint hy... OMIM:617258
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment, Shufflin... ORPHA:254886
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Ataxia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Anxiety, ... ORPHA:309288
Galactokinase Deficiency
Nuclear cataract, Hypergalactosemia, Small for gestational age, Failure to thrive, Hypercholester... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Steppage gait, Cognitive impai... OMIM:615035
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Wide cranial sutures, Scaphocephaly, Open mouth, Thin upper lip v... OMIM:619149
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Retinopathy, Pigmentary retinopathy, Mental deterioration OMIM:610951
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia, Cognitive impairment ORPHA:2246
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal circulating albumin ... ORPHA:86839
Dermoids Of Cornea
Corneal opacity OMIM:304730
Mental Retardation, X-Linked, Syndromic 12
Thick lower lip vermilion, Wide mouth, Brachycephaly, Mandibular prognathia, Thick upper lip verm... OMIM:309545
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:300983
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Progressive psychomotor deterioration, Gait disturbance, Ataxia, Sea-blue histiocy... OMIM:230600
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Optic atrophy, Hypersarcosinuria, Hypersarcosinemia, Ataxia, Emotional lability ORPHA:3129
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Short stature, Delayed closure of the anterior fontanelle, Increased susceptibilit... OMIM:604922
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Hypodontia, Intrauterine growth retardation, Short stature, Br... OMIM:101800
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Cognitive impairment, Tremor, Ataxia, Unsteady gait, Obesity OMIM:614947
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Cognitive impairment, Abnormal cor... ORPHA:561854
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Anxiety, Optic disc pallor, Retinal thinning OMIM:618970
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Apathy, Pr... ORPHA:247691
Momo Syndrome
Thick lower lip vermilion, Smooth philtrum, High palate, Short stature, Brachycephaly, Long philt... ORPHA:2563
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Short stature, Dental malocclusion OMIM:616202
Winchester Syndrome
Corneal opacity OMIM:277950
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Micrognathia, Microdontia, Short stature, Long philtrum, Growth delay, Delayed eru... OMIM:190350
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration OMIM:617575
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Riboflavin Transporter Deficiency
Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Aggressive behavior, Facial palsy... ORPHA:97229
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... ORPHA:290
Mental Retardation, Buenos Aires Type
Carious teeth, High palate, Wide mouth, Mandibular prognathia, Thin upper lip vermilion, Dental m... OMIM:249630
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Widely spaced teeth, Microdontia, Wide mouth, Short philtrum, Drooling, Frontal bo... OMIM:619293
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Self-injurious behavior, Obesity, Hypercholestero... ORPHA:819
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... ORPHA:2070
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Optic disc pallor, Cone dystrophy OMIM:268040
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... ORPHA:54
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Short stature, Choking episodes, Supernumerary tooth, Delayed ... ORPHA:2980
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Ataxia, Ina... OMIM:619389
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mcdonough Syndrome
Micrognathia, Short philtrum, Short stature, Mandibular prognathia, Furrowed tongue, Dental maloc... OMIM:248950
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... OMIM:616828
Failure to thrive in infancy, Hypercholesterolemia, Ataxia, Hepatosplenomegaly, Irritability, Thr... ORPHA:263501
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Intrauterine growth retardation, Growt... ORPHA:93324
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait OMIM:619470
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Familial Dysautonomia
Optic atrophy, Hyponatremia, Gait disturbance, Corneal erosion, Orthostatic hypotension, Heteroch... ORPHA:1764
Nestor-Guillermo Progeria Syndrome
Micrognathia, Growth delay, Short stature, Delayed closure of the anterior fontanelle, Osteoporos... OMIM:614008
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... ORPHA:398063
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Hallermann-Streiff Syndrome
Malar flattening, Micrognathia, High palate, Proportionate short stature, Wormian bones, Joint hy... OMIM:234100
Optic atrophy, Cognitive impairment, Ataxia ORPHA:551
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Partial fusion ... OMIM:305620
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Dysmetria, Retinal dystrophy, Failure to thrive, Cognitive impairment, Ataxia, Cat... OMIM:614877
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Ataxia, Optic atrophy OMIM:616737
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Cognitive impairment, Ataxia ORPHA:1171
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Short stature, Supernumerary tooth, Delayed eruption of teeth, Narrow ... OMIM:264475
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Failure to thrive, Progressive neurologic deterioration, Hyperalaninemia, Hypoalbu... OMIM:618329
Temple Syndrome
Small for gestational age, Truncal obesity, Hypercholesterolemia, Hypertriglyceridemia, Overweight OMIM:616222
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Progressive microcephaly, Impaired social interact... ORPHA:397933
Wolfram-Like Syndrome
Optic atrophy, Dementia, Peripheral axonal neuropathy, Progressive cerebellar ataxia, Anxiety, De... ORPHA:411590
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Corneal erosion, Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal ... ORPHA:89842
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... OMIM:270200
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Loss of ability to walk, Abnormal vitreous humor morphology, Retinal... ORPHA:2788
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Kabuki Syndrome 2
Micrognathia, Cleft palate, Intrauterine growth retardation, High palate, Hypodontia, Short statu... OMIM:300867
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Abnormal joint morphology, Wormian bones, Platybasia, Moderate generalized osteoporosis, Abnormal... OMIM:166230
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Disproportionate short-limb short stature, Wormian bones, Multi... OMIM:259410
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, High palate, Metopic suture patent to nasal root, Short stature, Trigo... ORPHA:3369
Sialidosis Type 2
Splenomegaly, Tremor, Ataxia, Corneal opacity, Abnormal macular morphology ORPHA:87876
Van Maldergem Syndrome 2
Micrognathia, High palate, Irregular dentition, Growth delay, Malar flattening, Osteopenia, Tente... OMIM:615546
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Short stature, Long philtrum, Anterior open-bite malocclusion... OMIM:617877
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Failure to thrive OMIM:271930
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Focal cortical dysplasia, Impaired social interaction... OMIM:610042
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Optic atrophy, Small for gestational age, Failure to thrive, Cognitive impairment, Hype... OMIM:614702
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, High palate, Microdontia, Short stature, Mandibular prognathia, Cubitu... OMIM:269300
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Hao-Fountain Syndrome
Trigonocephaly, Delayed cranial suture closure, Large fontanelles OMIM:616863
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Rod-cone dystrophy, Irritability, Pigmentary retinopathy OMIM:264470
Hsd10 Disease
Gait disturbance, Tremor, Focal white matter lesions, Ataxia, Abnormal social behavior, Frontotem... ORPHA:391417
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Depression, Optic atrophy OMIM:248000
Van Maldergem Syndrome 1
Micrognathia, High palate, Irregular dentition, Growth delay, Malar flattening, Osteopenia, Tente... OMIM:601390
Hamamy Syndrome
Dysphagia, Smooth philtrum, Micrognathia, High palate, Hypodontia, Brachycephaly, Long philtrum, ... OMIM:611174
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Micrognathia, Wide mouth, Short stature, Malar flattening, Everted low... ORPHA:85321
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
2Q24 Microdeletion Syndrome
Small for gestational age, Abnormality iris morphology, Failure to thrive, Cataract, Coloboma ORPHA:1617
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait ORPHA:320396
Leber Hereditary Optic Neuropathy
Postural tremor, Optic atrophy, Retinal telangiectasia, Ataxia, Retinal vascular tortuosity ORPHA:104
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Coach Syndrome 2
Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Harrod Syndrome
High palate, Intrauterine growth retardation, Narrow mouth, Dental malocclusion, Joint hyperflexi... ORPHA:2115
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive ORPHA:181393
Lamb-Shaffer Syndrome
Optic atrophy, Anxiety OMIM:616803
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Galloway-Mowat Syndrome 1
Optic atrophy, Dystonia, Hypoplasia of the iris, Small for gestational age, Ataxia, Cataract, Hyp... OMIM:251300
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Cole-Carpenter Syndrome 2
High palate, Short stature, Wormian bones, Osteopenia, Frontal bossing, Postnatal growth retardat... OMIM:616294
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resti... OMIM:300623
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Failure to thrive, Rod-cone dystrophy, Ataxia, Hypoalbuminemia OMIM:212065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Short stature, Abnormality of the philtrum, Wormian bones, Delayed eru... ORPHA:2863
Hepatoportal Sclerosis
Leukopenia, Cognitive impairment, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoal... ORPHA:64743
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract, Ataxia OMIM:616732
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Dystonia, Dementia, Aggressive behavior, Bradykinesia, Tremor, Abnormal autonomic ... ORPHA:329284
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Dystonia, Neutropenia, Failure to thrive, Anemia, Splenomegaly, Hyperammonemia, Th... ORPHA:79312
Leigh Syndrome With Leukodystrophy
Dystonia, Optic atrophy, Failure to thrive, Anemia, Progressive cerebellar ataxia, Emotional labi... ORPHA:255241
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Opacification... OMIM:245900
Retinal Venous Beading
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjun... OMIM:180080
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Spastic gait, Cognitive impairment, Limb dysmetria, Cataract OMIM:270800
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity, Coloboma, Lethargy OMIM:274270
Sialidosis Type 1
Gait disturbance, Cherry red spot of the macula, Decreased nerve conduction velocity, Splenomegal... ORPHA:812
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... ORPHA:39044
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy, Difficulty walking ORPHA:468661
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Atypical Rett Syndrome
Gait disturbance, Dystonia, Inappropriate crying, Pill-rolling tremor, Poor eye contact, Inapprop... ORPHA:3095
Walker-Warburg Syndrome
Optic atrophy, Abnormality of the optic nerve, Abnormal circulating creatine kinase concentration... ORPHA:899
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Short stature, Macroglossia, Malar flattening, Frontal bossi... OMIM:613038
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Dystonia, Failure to thrive, Elevated circulating acylcarnitine concentration, Let... ORPHA:26792
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Tremor, Short stepped ... OMIM:168605
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Spastic ataxia ORPHA:496756
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Dystonia, Punctate periventricular T2 hyperintense foci, P... ORPHA:309263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... ORPHA:85167
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Trigonocephaly, Deep philtrum, Osteopenia, Contractures of the large j... ORPHA:329178
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Dystonia, Punctate periventricular T2 hyperinten... ORPHA:309271
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Menkes Disease
Intrauterine growth retardation, Short stature, Brachycephaly, Osteoporosis, Wormian bones, Joint... OMIM:309400
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Anterior uveitis, Panuveitis, Uveitis, Non-caseati... OMIM:607665
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Neonatal short-limb short stature, Disproportiona... OMIM:259420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Dystonia, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy ORPHA:289916
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk OMIM:617830
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival ict... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival ict... ORPHA:529799
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Elevated circulating creatine kinase concentration, Steppage gait, Facial palsy, B... OMIM:258450
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Optic atrophy, Irritability OMIM:609056
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Retinal Dystrophy And Obesity
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... OMIM:616188
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Rhizomelia, Postnatal growth retardation, Dental malocclusion OMIM:608940
Zimmermann-Laband Syndrome
Micrognathia, High palate, Cleft palate, Hypodontia, Wide mouth, Growth delay, Macroglossia, Supe... ORPHA:3473
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory ax... ORPHA:457205
Oliver Syndrome
High palate, Intrauterine growth retardation, Short philtrum, Mandibular prognathia, Knee flexion... ORPHA:2920
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Fanconi Anemia, Complementation Group S
Short stature, Thick upper lip vermilion, Narrow palate, Dental malocclusion, Macrodontia OMIM:617883
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Dementia, Retinal pigment epithelial mottling, ... ORPHA:644
Nescav Syndrome
Optic atrophy, Inability to walk, Peripheral axonal neuropathy OMIM:614255
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal circulating phytanic acid concentration, Motor axonal neuropathy, Progressive... ORPHA:247815
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Disproportionate short-limb short stature, Wormian bones, Multi... OMIM:259440
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Tremor, Progressive cerebellar ataxia, Pigmentary... OMIM:164500
Norrie Disease
Optic atrophy, Cachexia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, ... ORPHA:649
Lissencephaly 8
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract OMIM:617255
Conjunctival hyperemia, Conjunctivitis, Abnormality of the optic nerve, Lethargy, Apathy, Facial ... ORPHA:863
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Brachycephaly, Long philtrum, Delayed er... OMIM:157980
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, ... OMIM:251880
Cole-Carpenter Syndrome
Micrognathia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology, ... ORPHA:2050
C3 Glomerulopathy
Elevated circulating creatinine concentration, Central serous chorioretinopathy, Yellow/white les... ORPHA:329918
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Short stature, Joint contracture of the hand, Camptodactyly,... OMIM:300373
Hajdu-Cheney Syndrome
Micrognathia, High palate, Premature loss of teeth, Umbilical hernia, Foot acroosteolysis, Long p... OMIM:102500
Severe Canavan Disease
Optic atrophy, Inability to walk, Irritability, Lethargy ORPHA:314911
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Exaggerated startle response, Cerebral atrophy OMIM:272750
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Gait disturbance, Dystonia, Dementia, Elevated circulating creatine kinase concent... OMIM:614298
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Morquio Syndrome C
Corneal opacity OMIM:252300
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Hypercholesterolemia, Ataxia, Megalocornea, Astigmatism, Ab... ORPHA:2479
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk ORPHA:431329
Silver-Russell Syndrome 2
Micrognathia, Intrauterine growth retardation, Short stature, Delayed closure of the anterior fon... OMIM:618905
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Spastic gait, Corneal opacit... ORPHA:496790
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Vitreo... OMIM:193220
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Motor axona... OMIM:231550
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait OMIM:613162
Apert Syndrome
Brachyturricephaly, Cervical C5/C6 vertebrae fusion, Cleft palate, Midface retrusion, Large fonta... OMIM:101200
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Nonketotic hyperglycinemia, Ataxia, Loss of ability to walk in early childhood, Ir... ORPHA:401866
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Retinopathy ORPHA:385
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Micrognathia, High palate, Dental malocclusion, Craniosynostosis, Joint contr... OMIM:182212
Pantothenate Kinase-Associated Neurodegeneration
Retinal flecks, Rod-cone dystrophy, Gait disturbance, Dementia, Intention tremor, Pigmentary reti... ORPHA:157850
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Optic atrophy, Gait disturbance, Ataxia, Craniofacial dystonia OMIM:617282
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Spastic Paraplegia 75, Autosomal Recessive
Dysmetria, Astigmatism, Cognitive impairment, Optic atrophy OMIM:616680
Sclerosteosis 1
Mandibular prognathia, Sclerotic scapulae, Malar flattening, Frontal bossing, Dental malocclusion... OMIM:269500
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... ORPHA:2969
Short Stature, Dauber-Argente Type
Short stature, Delayed eruption of teeth, Reduced bone mineral density, Osteopenia, Postnatal gro... OMIM:619489
Cach Syndrome
Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Cognitive impairment, Apathy, Progressive n... ORPHA:135
Progeria-Short Stature-Pigmented Nevi Syndrome
Micrognathia, Hypodontia, Short stature, Bifid uvula, Osteopenia, Selective tooth agenesis, Denta... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Craniofaciofrontodigital Syndrome
Short stature, Long philtrum, Cubitus valgus, Joint hypermobility, Frontal bossing, Dental malocc... OMIM:114620
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, High, narrow palate, Micrognathia, Cleft palate, Thickened calvaria, Large fontanel... ORPHA:2780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Leukopenia, Anemia, Hepatosplenomegaly, Inabi... ORPHA:505248
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Aplasia/Hypoplasia of the macula, Macular dystroph... ORPHA:33445
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Gait disturbance, Retrobulbar optic neuritis, Ataxia, Abnormal leukocyte morphology ORPHA:3151
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Optic atrophy, Failure to thrive, Ataxia, Irritability, Lethargy OMIM:618226
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Retinal arteriolar tortuosity, Polycoria, Hypoplasia of the iris, Elevate... OMIM:175780
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response OMIM:272800
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Weight loss, Abnormal pupil morphology, Corneal op... ORPHA:3163
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Gait disturbance, Dystonia, Gait imbalance, Abnormality of somato... ORPHA:98755
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Usher Syndrome, Type Iiib
Ataxia, Optic disc pallor, Truncal ataxia OMIM:614504
Auriculocondylar Syndrome
Mandibular condyle aplasia, Micrognathia, Cleft palate, Dental crowding, Hamartoma of tongue, Mic... ORPHA:137888
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5