Gene Summary

Name:
cell death-inducing DFFA-like effector c
Synonyms:
Fsp27,  CIDE-3,  CIDE-3alpha

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Cidectm1b(EUCOMM)Wtsi HOM Early adult 1.27×10-05
abnormal auditory brainstem response Cidectm1b(EUCOMM)Wtsi HOM   Early adult 6.17×10-05
decreased total body fat amount Cidectm1b(EUCOMM)Wtsi HOM   Early adult 4.86×10-05
decreased circulating alkaline phosphatase level Cidectm1b(EUCOMM)Wtsi HOM Early adult 8.81×10-05
increased mean corpuscular volume Cidectm1b(EUCOMM)Wtsi HOM Early adult 6.94×10-05
persistence of hyaloid vascular system Cidectm1b(EUCOMM)Wtsi HOM   Early adult 5.59×10-05
increased fasting circulating glucose level Cidectm1b(EUCOMM)Wtsi HOM   Early adult 4.24×10-06
increased lean body mass Cidectm1b(EUCOMM)Wtsi HOM   Early adult 8.01×10-05
abnormal optic disk morphology Cidectm1b(EUCOMM)Wtsi HOM   Early adult 1.40×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Increased adipose ... ORPHA:71529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Hearing impairment, Progressive hearing impairment, Type II diabetes mellitus, Sen... OMIM:614296
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71526
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma ORPHA:2732
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... OMIM:300946
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Optic Atrophy 2
Optic atrophy OMIM:311050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor, Claw hand deformity OMIM:618511
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... OMIM:615238
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelin... OMIM:607250
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment OMIM:165300
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, EEG with generalized polyspikes, Retinal dystrophy OMIM:614706
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 2
Enlarged peripheral nerve, Increased adipose tissue around the neck, Increased facial adipose tis... OMIM:151660
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, Camptodactyly of finger, EEG with oc... OMIM:619323
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... ORPHA:276575
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Motor axonal neuro... OMIM:617519
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... OMIM:617885
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Hearing impairment, Pancytopenia, Hypomethi... ORPHA:2169
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Sensorineural hearing impairment OMIM:620086
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Abnormal retinal nerve ... ORPHA:1215
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe ORPHA:320396
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Merrf
Optic atrophy, Multiple lipomas, Sensorineural hearing impairment ORPHA:551
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Hearing impairment, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Decreased sensory n... OMIM:609260
Liberfarb Syndrome
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Retinal degeneration, Bone... OMIM:618889
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Bone Marrow Failure Syndrome 3
Cupped ear, Failure to thrive, Hearing impairment, Aplastic anemia, Persistence of hemoglobin F, ... OMIM:617052
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hirsutism, Polyphagia, L... OMIM:608594
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Sensori... ORPHA:79237
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... OMIM:616828
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Polycyth... OMIM:600501
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Hearing impairment, Bull's eye maculopathy OMIM:614504
Wolfram-Like Syndrome
Optic atrophy, Congenital sensorineural hearing impairment, Glucose intolerance, Peripheral axona... ORPHA:411590
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s... OMIM:269700
Majeed Syndrome
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... OMIM:609628
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, EEG with burst suppression, Knee flexion contracture OMIM:619303
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Temple Syndrome
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... OMIM:616222
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia, Reduced C-peptide level, Flexion contrac... OMIM:618856
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Bilateral sensorineural hearing impairment, Papilledema, Retinal arteriolar constriction, Progres... OMIM:124950
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Abno... OMIM:598500
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Failure to thrive, Hearing impairment, Leukem... ORPHA:811
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Abnormal middle ear morphology, Increased... OMIM:182290
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... OMIM:617872
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Adipose tissue loss, Lipodystrophy, Hype... ORPHA:528
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment ORPHA:1186
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Rod-cone dystrophy, Segmenta... OMIM:311070
Transient Neonatal Diabetes Mellitus
Hearing impairment, Failure to thrive, Umbilical hernia, Maturity-onset diabetes of the young, Hy... ORPHA:99886
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Polyphagia OMIM:620195
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration, EEG abnormality, Vacuolated lymphocyte... OMIM:256730
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Hearing impairment, Protruding ear, Thrombocytopenia, Chronic ... ORPHA:261250
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular v... OMIM:611590
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Axonal degeneration, Elevated circulating creatine kinase concentration, Periphe... OMIM:208920
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperbilirubinemia,... OMIM:609734
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Optic atrophy, Failure to... ORPHA:26792
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Cebalid Syndrome
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia OMIM:618774
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re... OMIM:612562
Optic Atrophy 5
Optic atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials OMIM:610708
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Lipemia retinalis, Hypercholestero... OMIM:207750
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:604484
Schaaf-Yang Syndrome
Hypogonadism, Thick eyebrow, Polyphagia, Skin-picking, Camptodactyly, Flexion contracture, Arthro... OMIM:615547
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Hypsarrhythmia OMIM:618776
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen OMIM:618632
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... OMIM:620085
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:619260
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Huntington Disease
Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Disinhibition, Polypha... ORPHA:399
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin OMIM:614962
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Sensorineural hearing impairment, Retinal degeneration, Elevated cir... OMIM:300438
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre... OMIM:608612
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Sensory axonal neuropathy, Decreased nerve conduction velo... ORPHA:457205
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity ORPHA:633
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairmen... OMIM:520000
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... OMIM:231100
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Hearing impairment, Epiretinal membrane, Trac... ORPHA:891
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Immunodeficiency 96
Recurrent otitis media, Increased proportion of gamma-delta T cells, Increased mean corpuscular v... OMIM:619774
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus ORPHA:77296
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggr... ORPHA:261229
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... ORPHA:96184
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sensorineural hear... OMIM:249270
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy, Hearing impairment ORPHA:178377
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Megaloblastic anemia, Thrombocytopenia, Diabetes... ORPHA:49827
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Increas... ORPHA:79240
Trichothiodystrophy 6, Nonphotosensitive
Bilateral sensorineural hearing impairment, Decreased mean corpuscular volume, Increased HbA2 hem... OMIM:616943
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Cinca Syndrome
Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypocalcemia, Polyphagia, ... OMIM:606407
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration... ORPHA:264580
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... OMIM:616881
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Failure to thrive, Slender build, Hypsarrhythmia, EEG abnormality ORPHA:505216
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichos... OMIM:262190
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Canavan Disease
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Flexion ... ORPHA:141
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Smith-Magenis Syndrome
Conductive hearing impairment, Failure to thrive in infancy, Obesity, Retinal detachment, Hyperch... ORPHA:819
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... OMIM:261680
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia ORPHA:177910
Krabbe Disease
Optic atrophy, Failure to thrive, Hearing impairment, Decreased nerve conduction velocity, Periph... OMIM:245200
Optic Atrophy 14
Optic disc pallor OMIM:620550
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hypopigmentation of hair, Inappropriate laughter, Hyperactivity ORPHA:411515
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, An... ORPHA:79312
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Optic disc pallor, Facial... OMIM:611490
Diencephalic Syndrome
Optic atrophy, Cachexia, Macrotia, Decreased body weight ORPHA:1672
Sarcosinemia
Optic atrophy, Infantile sensorineural hearing impairment, Hypersarcosinemia ORPHA:3129
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Failure to thrive, Large earlobe, Decreased body weight, EEG abnormality, Flexion ... OMIM:618346
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Failure to thrive, Hypoglycemia, Hyperammonemia, Sensorineural hearing impairment,... OMIM:614739
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosens... ORPHA:1187
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Type I diabetes mellitus, Hypocholesterolemia, Abnormal er... ORPHA:96180
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Sensorineural hearing impairment, Retinal detachment, Iris... ORPHA:1473
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Sensorineural hearing impairment OMIM:612989
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98793
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestat... OMIM:614702
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177904
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177901
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98754
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Hypo... ORPHA:398069
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Insulin resistance, Pigmentary retinopathy, Type I diabetes mellitus, Failure to th... OMIM:606721
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa... ORPHA:90674
Fetal Cytomegalovirus Syndrome
Optic atrophy, Chorioretinitis, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocy... ORPHA:294
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest... ORPHA:412
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Hearing impairm... ORPHA:90321
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Hyperglycemia OMIM:615986
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums, Hirsutism OMIM:300804
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment ORPHA:99014
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia OMIM:615026
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Smal... OMIM:218030
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Infantile Refsum Disease
Optic atrophy, Failure to thrive, Hearing impairment, Elevated circulating phytanic acid concentr... ORPHA:772
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr... ORPHA:90673
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Optic disc pallor, Hyperalaninemia OMIM:619170
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase ORPHA:401768
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Decreased HDL cholesterol concentration, Decreased r... OMIM:176270
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Obesity, Papilledema, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
Cinca Syndrome
Abnormality of neutrophils, Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Se... ORPHA:1451
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Hearing impairment ORPHA:65
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Long eyebrows ORPHA:397941
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Optic disc pallor, Vaginal hernia ORPHA:3173
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Optic Atrophy 11
Optic atrophy, Hearing impairment, Cherry red spot of the macula, EEG with focal sharp waves, Fac... OMIM:617302
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty, Increased blood urea nitrogen, Hy... ORPHA:251004
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism, Polyphagia, Low plasma citrulline, Steatorrhea, A... ORPHA:95427
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Transient hear... ORPHA:448237
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight, Hearing impairment OMIM:614651
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Leukocytosis ORPHA:90065
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Failure to thrive, Chorioretinal coloboma, Sensorineural hearing impairment, Macro... ORPHA:163937
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Papilledema, Hyperkalemia OMIM:620366
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Pigmentary retinopathy, Peripheral demyelination, A... OMIM:609033
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type ... ORPHA:453533
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Small for ... OMIM:618857
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, Elevated amniotic fluid alpha-fetoprotein, Undetectable visual evoked potentials, S... ORPHA:423479
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Hearing impairment, Glycosuria, Sensorineural hearing impairment, Bone spicule pig... OMIM:268315
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Pediatric-Onset Graves Disease
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosi... OMIM:618278
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Optic atrophy, Failure to thrive, Sensorineural hearing impairment, EEG abnormality... ORPHA:2971
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Enamel agenesis, Cone/... OMIM:217080
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Canavan Disease
Optic atrophy, Hearing impairment, Hypsarrhythmia, Multifocal epileptiform discharges, Increased ... OMIM:271900
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Mild neurosensory hearing impairment, A... OMIM:601152
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Sideroblastic anemia, Sensorineural he... OMIM:222300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Inguinal hernia, Joint contracture OMIM:614498
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Optic atrophy, Hyperalaninemia, Retinal degeneration OMIM:616896
Lysinuric Protein Intolerance
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, H... ORPHA:470
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Neuhauser Syndrome
Cupped ear, Retinal detachment, Hypercholesterolemia, Large fleshy ears OMIM:249310
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Hyperuricemia, Hearing impairment ORPHA:2801
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Failure to thrive, Hearing impairment, Hyperalaninemia, Optic disc pallor, Optic n... OMIM:618249
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Muscle-Eye-Brain Disease
Optic atrophy, EEG abnormality, Elevated circulating creatine kinase concentration ORPHA:588
Jalili Syndrome
Abnormal dental enamel morphology, Optic atrophy, Amelogenesis imperfecta, Abnormality of retinal... ORPHA:1873
Stt3B-Cdg
Optic atrophy, Failure to thrive, Thrombocytopenia ORPHA:370924
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Hypercholesterolemia, EEG abnormality, Sensorineural hearing impairment ORPHA:2479
Retinitis Pigmentosa
Optic atrophy, Conductive hearing impairment, Obesity, Attenuation of retinal blood vessels, Hype... ORPHA:791
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Fair hair, Delayed menarche, Inappropriat... ORPHA:72
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Rod-cone dy... OMIM:612674
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Pigmentary retinopathy, Abnormal auditory evoked potent... OMIM:216400
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor, Flexion con... OMIM:609541
Trisomy 18P
Attention deficit hyperactivity disorder, Highly arched eyebrow, Polyphagia ORPHA:1715
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Thrombocytopenia OMIM:615597
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Highly arched eyebrow, Bruxism, Long eyelashes, Thick eyebrow, Inappropr... OMIM:156200
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Madras Motor Neuron Disease
Tinnitus, Optic atrophy, Facial palsy, Sensorineural hearing impairment ORPHA:137867
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Decreased number of peripheral myelinated nerve fiber... ORPHA:320406
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79444
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Pancytopenia, Hypocalcemi... OMIM:259700
Castleman Disease
Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Dec... ORPHA:160
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Weaver Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Polyphagia, Camptoda... OMIM:277590
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Sensorineural h... OMIM:300972
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Mevalonic Aciduria
Low-set ears, Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, Hepatosp... OMIM:610377
N-Acetylglutamate Synthase Deficiency
Hypothermia, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, Hyperglutaminemia, Low plasm... OMIM:237310
Lysosomal Acid Lipase Deficiency
Failure to thrive, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hypona... ORPHA:275761
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Sparse body hair, Abnormal hair morphology, Generalized lipo... ORPHA:79474
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Pigmentary retinopathy, Abnormal auditory evoked potent... OMIM:133540
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hyperglycinemia, Hypothermia, Hypoglycemia OMIM:245400
Pancreatic And Cerebellar Agenesis
Low-set ears, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue... OMIM:609069
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, In... ORPHA:404448
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... OMIM:259710
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Papilledema, Thrombocytopenia, Small for gest... OMIM:618775
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Low-set ears, Hypoglycemia OMIM:608688
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Inguinal... ORPHA:96121
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemi... ORPHA:79259
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Luscan-Lumish Syndrome
Polyphagia, High anterior hairline, Aggressive behavior, Hirsutism OMIM:616831
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased circulati... ORPHA:226307
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79443
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of... OMIM:614643
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Mildly elevated creatine kinase, Elevat... ORPHA:95433
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect