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Gene: Wdr45 MGI:1859606

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Gene Summary

Name:
WD repeat domain 45
Synonyms:
Sfc19,  C79260,  DXImx38e,  Wdrx1,  JM5

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
abnormal auditory brainstem response Wdr45em1(IMPC)J HEM   Early adult 1.95×10-06
abnormal startle reflex Wdr45em1(IMPC)J HEM Early adult 4.12×10-06
hyperactivity Wdr45em1(IMPC)J HEM   Early adult 5.85×10-08
increased circulating alkaline phosphatase level Wdr45em1(IMPC)J HOM   Early adult 6.66×10-15
decreased bone mineral density Wdr45em1(IMPC)J HOM   Early adult 1.47×10-10
hyperactivity Wdr45em1(IMPC)J HEM   Late adult 3.81×10-08
increased circulating HDL cholesterol level Wdr45em1(IMPC)J HEM   Early adult 4.59×10-05
decreased bone mineral content Wdr45em1(IMPC)J HOM   Early adult 3.77×10-06
abnormal bone structure Wdr45em1(IMPC)J HEM   Early adult 3.10×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Wdr45 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 Wdr45 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic para... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Parkinsonism, Rigidity, Delayed speech and language development, Abnormal autonomic ner... OMIM:300894
Infantile Spasms Syndrome
Hypsarrhythmia ORPHA:3451

The table below shows human diseases predicted to be associated to Wdr45 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Elevated circulating creatine kinase concentration... OMIM:160120
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Dysphagia, Gait ataxia... ORPHA:225154
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired vibration sensation in the lower limbs, Global brain atrophy, Cerebellar vermis atrophy,... ORPHA:94124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... OMIM:267700
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Inability to walk, Iris hypopigmentation, Elevated hepatic transamin... ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Steppage gait, Cerebral atrophy, Hypercholesterolemia, Cerebellar atrophy, Distal sensory... OMIM:607250
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Oc... OMIM:208920
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Dysdiadochokinesis, Clumsiness, Myoclonus, Retinal degeneration, Ataxi... OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Abnormal cerebellum morphology, Optic atrophy, Parkinsonism, Abnormality of e... OMIM:204200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment, Mildly elevated creatine kinase OMIM:614369
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Jaundice, Elevated hepatic transamina... OMIM:603553
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Weight loss, Normocytic anemia, Hypophosphatemia, E... ORPHA:398063
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Babinski sign, Lower limb ... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Ataxia, Abn... OMIM:204500
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Cerebellar hypoplasia, Delayed speec... OMIM:618805
Alg6-Cdg
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Cerebellar hypoplasia, Retinal degen... ORPHA:79320
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia... OMIM:616860
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Abnormal autonomic nervous system physiology, Babinski sign, Neuronal loss ... ORPHA:282166
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... OMIM:613280
Citrullinemia Type Ii
Hyperactivity, Echolalia, Elevated hepatic transaminase, Acute hyperammonemia, Abnormal eating be... ORPHA:247585
Ataxia-Oculomotor Apraxia 4
Abnormal pyramidal sign, Tetraplegia, Oculomotor apraxia, Atrophy/Degeneration affecting the brai... OMIM:616267
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Abnormal pyramidal sign, Cerebellar vermis atrophy, Gait imbalance, ... ORPHA:64753
Retinitis Pigmentosa
Hyperinsulinemia, Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy,... ORPHA:791
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... OMIM:601382
Aceruloplasminemia
Blepharospasm, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased serum iron,... ORPHA:48818
Hsd10 Mitochondrial Disease
Spasticity, Cerebral cortical atrophy, Sensorineural hearing impairment, Spastic tetraplegia, Opt... OMIM:300438
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Hyp... ORPHA:204
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Optic atrophy, EEG abnormality, Retinal degeneration, Macular degeneration, Myoclonus... OMIM:256730
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Cerebral cortical atrophy, Rigidity, Myoclonus, Disinhibition, Gait disturbance, Ba... OMIM:600795
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Jaundice, Elevated hepatic transaminase, Cataract, Tremor, Hypoproteinemia, Hyper... OMIM:608093
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, EEG abnormality, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurod... OMIM:610951
Leber Congenital Amaurosis 1
Hyperthreoninemia, Sensorineural hearing impairment, Optic disc drusen, Attenuation of retinal bl... OMIM:204000
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Reduced beta-hexosaminidase activity, Elevated circulating creatine kina... ORPHA:309169
Aceruloplasminemia
Chorea, Anemia, Blepharospasm, Aceruloplasminemia, Abnormality of extrapyramidal motor function, ... OMIM:604290
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation, Hearing impair... ORPHA:217012
Microtriplication 11Q24.1
Retrocerebellar cyst, Delayed speech and language development, Hyperlipidemia, Attached earlobe, ... ORPHA:289522
Hsd10 Disease, Infantile Type
Optic atrophy, Choreoathetosis, Hypoglycemia, Dysphagia, Spoken word recognition deficit, Hearing... ORPHA:391428
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Distal sensory impairment, Hand tremor, Gait disturbance, Mi... OMIM:604484
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Poor fine motor coordination, Increased total iron binding capacity, Truncal ataxia, Elevated hep... ORPHA:309854
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula... OMIM:613752
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Cataract, Keratoconus, Fundus atrophy, Optic disc pallor, P... OMIM:204100
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Ankle clonu... OMIM:604360
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... OMIM:617018
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Neuroectodermal Melanolysosomal Disease
Spasticity, Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy... ORPHA:33445
Osteoporosis
Osteoporosis OMIM:166710
Galloway-Mowat Syndrome 8
Cerebral cortical atrophy, Brain atrophy, Abnormal cerebellum morphology, Hearing impairment, Hyp... OMIM:618349
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Abnormal optic disc morphology, Abnormality of retinal pigmentation, Cata... ORPHA:65
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Distal sensory im... OMIM:615048
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Cataract, Tremor, Optic disc pallor,... OMIM:165300
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Sensorineural hearing impairment, Decreased circulating ceruloplasmin concentrati... OMIM:242150
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... OMIM:614170
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Cerebellar hypoplasia, EEG with focal spikes, Delayed speech and language development, Ataxia, Ab... OMIM:616917
Brittle Cornea Syndrome 1
Keratoglobus, Disproportionate tall stature, Abnormal cornea morphology, Decreased corneal thickn... OMIM:229200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Hyperactivity, Delayed speech and language development, Myoc... OMIM:615924
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegal... OMIM:209950
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... OMIM:164500
Abetalipoproteinemia
Keratoconjunctivitis sicca, Elevated hepatic transaminase, Upper motor neuron dysfunction, Reticu... ORPHA:14
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Brain atrophy, Limb hypertonia, Optic atrophy, Rigidity, Retinal degeneration, Myoclo... ORPHA:442835
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Truncal ataxia, Oculomotor apraxia, Retinal atrophy, Difficulty walking, Dysphagia, Unsteady gait... ORPHA:412057
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Echolalia, Abnormality of extrapyramidal motor function, Disinhi... ORPHA:275864
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... ORPHA:3202
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Reticulocytosis, A... OMIM:612126
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Elevated hepatic transaminase, P... ORPHA:507
Hyperleucine-Isoleucinemia
Failure to thrive, Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Abnormal vesti... OMIM:520000
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Optic atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia,... OMIM:614877
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Cerebral pal... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Cerebral pal... ORPHA:529799
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Elevated circulating alanine am... ORPHA:158061
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal blood vessels, Keratoconus, Opti... OMIM:604393
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Macular degeneration, Choreoatheto... ORPHA:99
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Retinal a... ORPHA:370022
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... OMIM:618889
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Ataxia, Lymphopenia, Hypoglycemia, Hyperpigmentation of the ski... OMIM:617575
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Macrotia, Rod-cone dystrophy, Cerebellar hypoplasia, Delayed speech and... OMIM:212065
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... ORPHA:98870
Johanson-Blizzard Syndrome
Anemia, Sensorineural hearing impairment, Diabetes mellitus, Failure to thrive, Hypoproteinemia ORPHA:2315
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Decreased body weight, Delayed speech and language development, Cerebe... OMIM:618347
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... OMIM:601455
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Abnormal optic disc morphology, Microcytic anemia, Underdeveloped su... ORPHA:293967
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of... OMIM:615631
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Sensorineural hearing impairment, Falls, ... ORPHA:363710
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... ORPHA:276435
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ankle clonus, Truncal ataxia, Progressive gait ataxia, Macular degeneration, Tortuosity of conjun... ORPHA:284289
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Abnormal nervous system electrophysiology, Increased neuronal autofluoresce... OMIM:601780
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Dysphagia, Cerebellar atrophy, Unsteady gait OMIM:615945
Mucolipidosis Iv
Optic atrophy, Spastic tetraplegia, Retinal degeneration, Babinski sign, Corneal opacity, Cerebel... OMIM:252650
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Prelingual sensorineural hearing impairment, Optic atrophy, Inability to wa... ORPHA:52368
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Abcd Syndrome
Total intestinal aganglionosis, Albinism, Abnormal auditory evoked potentials, White eyelashes, W... OMIM:600501
Combined Oxidative Phosphorylation Deficiency 37
Spasticity, Hyperalaninemia, Sensorineural hearing impairment, Decreased liver function, Optic at... OMIM:618329
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoa... OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocyt... OMIM:308240
Wilson Disease
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypoesthesia, Kayser-Fleischer ... OMIM:277900
Aicardi-Goutieres Syndrome 9
Anemia, Spasticity, Hemolytic anemia, Spastic diplegia, Spastic tetraplegia, Weight loss, Delayed... OMIM:619487
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Eosinophilic Gastroenteritis
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:2070
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Abnormal lactate dehydrogenase level, Macrothro... ORPHA:67044
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Retinal deg... OMIM:619260
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy ORPHA:423296
Spastic Paraparesis And Deafness
Spastic paraparesis, Cataract, Tremor, Hearing impairment OMIM:312910
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Failure to thrive,... OMIM:603554
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... OMIM:226990
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Failur... OMIM:615895
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Prominent antitragus, Low alkaline phosphatase, Cerebellar atrophy, Ataxia OMIM:618879
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration, Recurrent otitis media, Obesity, Hearing impairment OMIM:615993
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibration sensation at ankles, Optic atrophy, Babinski sign, Spastic paraplegia, Opto-ch... OMIM:615491
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Postural tremor, Myoclonus, Unsteady gait, Action tremor, Dysphagia, Cerebellar atro... OMIM:254900
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean co... ORPHA:231226
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Dysdiadochokinesis, Optic atrophy, Atrophy/Degeneration affecting the brainstem, At... OMIM:612319
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... ORPHA:71275
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Cerebellar hypoplasia, Oculomotor apraxi... ORPHA:529665
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... ORPHA:1667
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Abnormal glucose homeostasis, Inability to walk, Elevated circulatin... ORPHA:90117
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Babinski sign, Dysphagia, Hearing impairment, Bradykinesia, Gait ataxi... OMIM:615157
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Impaired social interactions, Delayed speech and language development, Elevated... ORPHA:329249
Brittle Cornea Syndrome
Keratoglobus, Conductive hearing impairment, Sensorineural hearing impairment, Corneal erosion, D... ORPHA:90354
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, EEG with generalized slow activity grade 4, Cer... ORPHA:79263
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Truncal obesity ORPHA:75858
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Elevated circul... OMIM:616829
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Hyporeflective spaces on macular OCT, Choriocapillaris atroph... ORPHA:59181
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Spasticity, EEG with generalized slow activity grade 4, EEG with series of fo... ORPHA:168491
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Inability to walk, Retinal dystrophy, Ataxia, Lower limb spasti... OMIM:616756
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Retinopathy, Optic atrophy, Parkinsonism, Rigidity, ... ORPHA:216873
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Decreased liver function, Low-set ears, Thrombocytopenia, Elevated cir... OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Stepp... OMIM:618387
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Sensorineural hearing impairment, Jaundice, Elevated hepatic transa... ORPHA:540
Cog4-Cdg
Frontotemporal cerebral atrophy, Limb hypertonia, Elevated hepatic transaminase, Ataxia, Hepatosp... ORPHA:263501
Peroxisome Biogenesis Disorder 5B
Rod-cone dystrophy, Sensorineural hearing impairment, Elevated circulating phytanic acid concentr... OMIM:614867
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Cerebral cortical atrophy, In... OMIM:617672
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Optic atrophy, Choreoathetosis, Elevated hepatic transaminase, Elevated circulati... OMIM:615673
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Alg1-Cdg
Cerebellar atrophy, Decreased liver function, Cerebral atrophy, Hypoalbuminemia ORPHA:79327
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Cerebellar hypoplasia, Absent brainstem auditory responses, Diffuse cerebral... ORPHA:3240
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Pantothenate Kinase-Associated Neurodegeneration
Palilalia, Optic atrophy, Limb dystonia, Choreoathetosis, Abetalipoproteinemia, Speech articulati... ORPHA:157850
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Brain atrophy, Cranial nerve compression, Abnormal motor neuron morphology, Upper motor neuron dy... ORPHA:52430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, S... OMIM:249270
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:268010
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Galloway-Mowat Syndrome 1
Spasticity, Macrotia, Hypopigmentation of the skin, Spastic tetraplegia, Optic atrophy, Small for... OMIM:251300
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Rod-cone dystrophy, Rigidity, Retinal atrophy, Ataxia, Neuronal loss in central nervo... OMIM:610127
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Paresthesia, Shuffling gait, Optic atrophy, Parkinsonism with favora... ORPHA:254886
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic gait, Gait disturbance, Babinski sign, Spastic paraplegia, Elevated circulating alkaline ... ORPHA:329475
Neurodegeneration With Brain Iron Accumulation 7
Dysphagia, Delayed speech and language development, Increased circulating very long-chain fatty a... OMIM:617916
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Brain atrophy, Unconjugated hyperbilirubinemia, Elliptocytosis, Myoclonus, Reti... OMIM:618278
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, L... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Cockayne Syndrome Type 3
Conductive hearing impairment, Abnormality of peripheral nerve conduction, Premature graying of h... ORPHA:90324
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Abnormality of extrapyramidal m... OMIM:614298
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... ORPHA:2298
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... OMIM:615957
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Clumsiness, Retinal degeneration, I... ORPHA:79264
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Late-Infantile/Juvenile Krabbe Disease
Upper motor neuron dysfunction, Frequent falls, Difficulty walking, Acroparesthesia, Neuromuscula... ORPHA:206443
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Elevated circulating gamma-aminobuty... OMIM:619658
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Hypoproteinemia, Low-set ears, Hypocalcemia, Splenomegaly OMIM:235255
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... OMIM:617879
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Oliver-Mcfarlane Syndrome
Small for gestational age, Retinal degeneration, Pigmentary retinopathy, Central heterochromia OMIM:275400
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Tremor, Cerebellar atrophy OMIM:616187
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Abnormal circulating enzyme concentration or activity, Failure to ... ORPHA:79319
Refsum Disease, Classic
Somatic sensory dysfunction, Rod-cone dystrophy, Sensorineural hearing impairment, Elevated circu... OMIM:266500
Livedoid Vasculopathy
Anemia, Abnormal circulating lipid concentration, Paresthesia, Abnormality of the peripheral nerv... ORPHA:542643
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Elevated circulating phytanic acid concen... OMIM:614307
Arthrogryposis, Distal, Type 5
Keratoglobus, Retinal fold, Abnormality of retinal pigmentation, Astigmatism, Hypertonia, Keratoc... OMIM:108145
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Brain atrophy, Optic atrophy, Inability to walk, Chorioretinal hypopigmentati... OMIM:617303
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, P... ORPHA:64743
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Elevated circulatin... OMIM:251880
Nephronophthisis 15
Retinal degeneration, Obesity, Elevated hepatic transaminase, Cerebellar vermis hypoplasia OMIM:614845
Avian Influenza
Conjunctivitis, Leukopenia, Hepatitis, Elevated hepatic transaminase, Lymphopenia, Elevated circu... ORPHA:454836
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se... OMIM:609260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Thickened ears, Developmental cataract, Elevated circulating creatine kinase concentration, Large... OMIM:616809
Myopathy, spheroid body
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Broad-based gait, Waddling... OMIM:182920
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... OMIM:614018
Congenital Enterovirus Infection
Leukopenia, Anemia, Hepatic failure, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, L... ORPHA:292
Fumarase Deficiency
Hepatic failure, Optic atrophy, Hyperbilirubinemia, Polycythemia, Failure to thrive, Cerebral atr... OMIM:606812
Angelman Syndrome
Cerebral cortical atrophy, Optic atrophy, EEG abnormality, Fair hair, Iris hypopigmentation, Inab... ORPHA:72
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... OMIM:615362
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... OMIM:618144
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra... ORPHA:401768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Brain atrophy, Gait disturbance, Elevated circulati... OMIM:167320
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Amoebiasis Due To Entamoeba Histolytica
Anemia, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess, Elevated circula... ORPHA:67
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Krabbe Disease
Optic atrophy, Progressive spasticity, EEG abnormality, Diffuse cerebral atrophy, Autoimmune thro... OMIM:245200
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cerebellar hypoplasia, Hyperhomocystinemia, Elevated hepatic transaminase, El... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Optic disc pallor, Hemiparesis, Absence of acoustic reflex, Hyp... OMIM:619737
Spinocerebellar Ataxia 23
Gait ataxia, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Neurona... OMIM:610245
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Myoclonus, Elevated circulating creatine kinase concentratio... OMIM:159950
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Alg12-Cdg
Sensorineural hearing impairment, B lymphocytopenia, Cerebellar hypoplasia, Delayed speech and la... ORPHA:79324
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... OMIM:615768
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Developme... ORPHA:1368
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Hepatosplenomegaly, Hypoproteinemia, Low-set ears, Hypocalcemia, Splenomegaly ORPHA:1655
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Diabetes mellitus, Obesity OMIM:144800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Inability to walk, Eyelid myoclonus, Clumsiness... ORPHA:2590
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Failure to thrive, Decreased ... ORPHA:367
Xfe Progeroid Syndrome
Optic atrophy, Poor coordination, Corneal scarring, Cachexia, Elevated hepatic transaminase, Atte... OMIM:610965
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar atrophy, Dystonia, Neurodegen... OMIM:615889
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating selenium concentration, Obesity, Abnormal circulating ... ORPHA:171706
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Hyperactivity, Cerebral cortical atrophy, Optic atrophy, Ataxia, Tremor, Abnormal pin... OMIM:300983
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Decreased retinol-binding protein level, Retinal dystrophy, Microcornea, Iris coloboma, Periphera... OMIM:615147
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Bone-marrow foam cells, Hypercholesterolemia, Thrombocytopenia, Splenomegaly,... OMIM:278000
Hepatocellular Carcinoma
Anemia, Weight loss, Liver abscess, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, E... ORPHA:88673
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Absent speech, Difficulty walking, Slender build, Astrocytosis OMIM:611087
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... OMIM:213200
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Attention deficit hyper... ORPHA:401777
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Hyperinsulinemia, Hyperactivity, Limb dystonia,... ORPHA:363400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Macular atrophy, Microcornea, Cataract, Hypopl... OMIM:616171
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dense calcifications... OMIM:213600
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Tip-toe gait, Axonal degeneration, Decreased motor nerve conduc... OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Optic atrophy, Truncal ataxia, Upper motor neuron dysfunction, Babi... ORPHA:137898
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Progressive Non-Fluent Aphasia
Restlessness, Frontotemporal cerebral atrophy, Deficit in grammar, Apraxia, Abnormality of extrap... ORPHA:100070
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Delayed speech and language development,... OMIM:618090
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Irregular hyperpigmentation, Decreased body weight, Corneal erosion, Decreased plasma car... ORPHA:89842
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive, Hypertonia OMIM:604273
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Optic atrophy, Spastic tetraplegia, Ataxia, Neuronal loss in central ner... OMIM:256600
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased circulating lactate dehydrogenase concentration, Titubation, Ataxia, Elevated circulati... OMIM:619405
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait distur... ORPHA:391417
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Retinal telangiectasia, Cerebellar atrophy, Neurodegeneration, Hearing impairment ORPHA:438134
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Progressive hearing impairment, Iris hypopigmentation, Myoclonus, Cach... ORPHA:97229
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Delayed speech and language development, Tremor, Neonatal hyperb... ORPHA:79234
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormalit... ORPHA:79262
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Mevalonic Aciduria
Elevated hepatic transaminase, Attenuation of retinal blood vessels, Hepatosplenomegaly, Elevated... OMIM:610377
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hypopigmenta... ORPHA:79277
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract OMIM:615995
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Low alkaline phosphatase, Waddling gait OMIM:241510
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Low alkaline phosphatase, Delayed speech and language development, Hypsarrhythmia,... ORPHA:314389
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Spasticity, Spastic tetraplegia, Small for gesta... ORPHA:621
Supranuclear Palsy, Progressive, 1
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... OMIM:601104
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, EEG abnormality OMIM:239500
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Inability to walk, Limb dystonia, Babinski sign, Elevated circulating creatine... OMIM:617013
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss, Abnormal autonomic nervous system physiology, Postural ... ORPHA:85443
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Elevated circulating cre... OMIM:619473
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Elevated circulating alkaline phosphatase concentration, Papilled... OMIM:122860
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... ORPHA:324575
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, EEG abno... ORPHA:206448
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Apraxia, Inability to walk, Cerebellar h... OMIM:617810
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Elevated circulating acylcarnitine concentration, Sensorineural hearing impairment, ... OMIM:616878
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... OMIM:613608
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated hepatic transaminase, Ataxia, Absent speech, Elevated circulating alkal... OMIM:613489
Galactosemia
Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Postural tremor, Gai... ORPHA:352
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Retinal thinning, Optic disc pallor, Ataxia OMIM:618970
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Diabetes mellitus, Obesity, Retinal degeneration OMIM:615981
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Tay-Sachs Disease
Poor fine motor coordination, Global brain atrophy, Optic atrophy, Inability to walk, Hepatosplen... ORPHA:845
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Elevated hepatic transaminase, Hype... ORPHA:75563
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, Limb hypertonia, Retinal dystrophy, Babinski sign, HbH hemoglob... ORPHA:423479
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Optic atrophy, Abnormal macular morphology, EEG abnormality, Elevated hepatic transa... OMIM:608799
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:602579
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis, Spastic diplegia OMIM:257970
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase ... OMIM:614576
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Splenomegaly, Impaired glucose tolerance, Oculomotor apraxia, Retinal degenerati... OMIM:615630
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Global brain atrophy, Optic atrophy, Abnormal auditory evoked potent... ORPHA:909
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Hypertonia OMIM:250800
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... ORPHA:206594
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Rod-cone dystrophy, Sensorineural hearing impairment, Hepatic failure, Myoclonus, Diffuse... OMIM:607426
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Small for gestational age, Myoclonus, Neonatal hypoglycemia, Elevated circul... OMIM:619055
Spinocerebellar Ataxia 50
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... OMIM:620158
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Blepharospasm, Optic atrophy, Akinesia, Choreoathetosis, Babinski sign, Dys... OMIM:234200
Cln5 Disease
Spasticity, Hyperactivity, Cerebral cortical atrophy, Dysdiadochokinesis, Inability to walk, Trun... ORPHA:228360
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Behr Syndrome
Cerebellar vermis atrophy, Optic atrophy, Progressive spasticity, Truncal ataxia, Hypoplastic opt... OMIM:210000
Liver Disease, Severe Congenital
Poor fine motor coordination, Elevated hepatic transaminase, Cholesteatoma, Elevated circulating ... OMIM:619991
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestational age, Maternal ... ORPHA:99886
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Osteopetrosis, Autosomal Recessive 1
Anemia, Optic atrophy, Hypocalcemia, Pancytopenia, Elevated circulating alkaline phosphatase conc... OMIM:259700
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Hemochromatosis, Type 4
Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Cataract,... OMIM:606069
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Dysdiadochokinesis, Resting... ORPHA:247234
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy... ORPHA:139485
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Decreased prealbumin level, Hepatitis, Neutropenia in presence of a... ORPHA:37042
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Pelizaeus-Merzbacher Disease
Global brain atrophy, Abnormal pyramidal sign, Cerebellar vermis atrophy, Reduction of oligodendr... OMIM:312080
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Hepatic failure, Decreased circulating ceruloplasmi... OMIM:616828
Spastic Paraplegia 15, Autosomal Recessive
Abnormal cerebellum morphology, Spastic gait, Retinal degeneration, Macular degeneration, Ataxia,... OMIM:270700
Cockayne Syndrome
Somatic sensory dysfunction, Optic atrophy, Inability to walk, Retinal atrophy, Cachexia, Keratoc... ORPHA:191
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Inability to walk, Oculogyric crisis, Diffuse cerebral atrophy, Tremor, Difficulty... ORPHA:330050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar vermis atrophy, Optic atrophy, Hepatosplenomegaly, Hearing impairment, Splenomegaly, C... OMIM:614866
Wolfram Syndrome 1
Sensorineural hearing impairment, Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Atax... OMIM:222300
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, He... ORPHA:101075
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Loss of ambulation, Elevated circulating... OMIM:615424
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral cortical neurodegeneration, Hepatic failure, Myoclonus, Paralysis, Elevated hepatic tran... OMIM:203700
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Brain atrophy, Cerebellar hypoplasia, Small for gestational age... OMIM:214150
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Choreoathetosis, Ataxia, Tremor, Cerebral atro... OMIM:619422
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Retinal degeneration, Gait disturbance, Abnormal circulating enzyme concentr... ORPHA:79244
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration,... OMIM:214900
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Splenomegaly OMIM:602271
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... OMIM:615643
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Leukopenia, Anemia, Brain atrophy, Optic atrophy, Inability to walk, Absent speec... ORPHA:505248
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Astigmatism, Tre... OMIM:617284
4H Leukodystrophy
Dysdiadochokinesis, Optic atrophy, Progressive gait ataxia, Abnormality of extrapyramidal motor f... ORPHA:289494
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia,... OMIM:618093
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Gait imbalance, Hyperautofluorescent macular lesion, Poor coordination, Retin... OMIM:209900
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration, Sensorineural hearing impairment, Large earlobe OMIM:612948
Nephrotic Syndrome, Type 11
Delayed speech and language development, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology, Elevated hepatic transaminase, Elevated circulating... ORPHA:94093
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:607458
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Hepatic failure, Paresthesia, Cerebellar vermis atrophy, Limb ataxia, Im... OMIM:616719
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615982
Cockayne Syndrome Type 1
Pigmentary retinopathy, Conjunctivitis, Anemia, Macrotia, Abnormality of peripheral nerve conduct... ORPHA:90321
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the d... OMIM:610185
Intermediate Osteopetrosis
Anemia, Optic atrophy from cranial nerve compression, Cranial nerve compression, Hypocalcemia, He... ORPHA:210110
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Cafe-au-... OMIM:222470
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dysphagia, Dystonia OMIM:261630
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... ORPHA:98763
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Jaundice, Elevat... OMIM:613070
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Anemia, Cerebral cortical atrophy, Sensorineural hearing im... ORPHA:1192
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Macular degeneration, Myoclonus, Dysmetria, Cataract, Cerebellar atrophy... OMIM:619780
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Cerebral atrophy, Dys...