Gene Summary

Name:
adipocyte plasma membrane associated protein
Synonyms:
2310001A20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Apmapem1(IMPC)J HOM Late adult 2.00×10-07
abnormal vitreous body morphology Apmapem1(IMPC)J HOM Late adult 5.29×10-05
decreased grip strength Apmapem1(IMPC)J HOM Late adult 6.96×10-06
abnormal mouth morphology Apmapem1(IMPC)J HOM Late adult 2.52×10-05
fused cornea and lens Apmapem1(IMPC)J HOM Late adult 5.29×10-05
increased circulating HDL cholesterol level Apmapem1(IMPC)J HOM Late adult 6.65×10-07
abnormal lens morphology Apmapem1(IMPC)J HOM   Late adult 3.02×10-05
abnormal retina blood vessel morphology Apmapem1(IMPC)J HOM Late adult 5.29×10-05
iris synechia Apmapem1(IMPC)J HOM Late adult 9.59×10-08
decreased lean body mass Apmapem1(IMPC)J HOM Late adult 6.99×10-06
abnormal optic disk morphology Apmapem1(IMPC)J HOM Late adult 6.78×10-05
increased circulating cholesterol level Apmapem1(IMPC)J HOM Late adult 9.85×10-05
abnormal retina vasculature morphology Apmapem1(IMPC)J HOM Late adult 5.29×10-05
abnormal startle reflex Apmapem1(IMPC)J HOM Late adult 8.76×10-05
increased circulating phosphate level Apmapem1(IMPC)J HOM Late adult 2.65×10-07
abnormal vibrissa morphology Apmapem1(IMPC)J HOM Late adult 9.87×10-07
increased total body fat amount Apmapem1(IMPC)J HOM Late adult 7.47×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Forepaw

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Apmap mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Polyphagia ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... ORPHA:71526
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Mate... ORPHA:324575
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Type I diabetes mellitus, ... ORPHA:276575
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease... OMIM:615238
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemic hypoglycemia, Agitation, Di... ORPHA:276556
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Autoimmune Hypoparathyroidism
Conjunctivitis, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Laryngeal dystonia, Hypocalcemi... ORPHA:36913
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... ORPHA:79085
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Small for gestational age, ... OMIM:127000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Hypocalcemia, Obesity OMIM:612462
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Linear Verrucous Nevus Syndrome
Retinopathy, Sparse scalp hair, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Cata... ORPHA:2611
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... ORPHA:435651
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Obesity OMIM:103580
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca... OMIM:613154
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia ORPHA:329249
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia OMIM:603233
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy, Hyperch... OMIM:612526
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Retinopathy, Angioid streaks of the fundus, Retinal degeneratio... OMIM:239000
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance ORPHA:369873
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia OMIM:617885
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hyperphosphatemia, Angioid streaks of... OMIM:211900
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Peripheral axonal neuropathy, Hypercholesterolemia OMIM:607250
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy... ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ... ORPHA:94089
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia ORPHA:79445
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Sanjad-Sakati Syndrome
Hyperphosphatemia, Astigmatism, Corneal opacity, Hypocalcemia, Abnormal dental enamel morphology ORPHA:2323
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Hypogonadism OMIM:614962
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... OMIM:620058
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Retinal calcification, Developmental cataract, Hypocalcem... ORPHA:93325
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Fine hair, Hypercholesterolemia ORPHA:181393
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Autosomal Dominant Hypocalcemia
Alopecia, Hyperphosphatemia, Optic atrophy, Writer's cramp, Hypocalcemia, Hypomagnesemia ORPHA:428
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Hyperphosphatemia, Blue irides, Optic atrophy OMIM:101800
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Tremor, Dysto... OMIM:208920
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... ORPHA:79237
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli... ORPHA:254516
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Eales Disease
Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V... ORPHA:40923
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Calciphylaxis
Hyperphosphatemia, Cellulitis ORPHA:280062
Pseudohypoparathyroidism Type 1C
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ... ORPHA:79444
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Striatonigral Degeneration, Infantile
Failure to thrive, Choreoathetosis, Dystonia, Optic atrophy OMIM:271930
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract OMIM:204200
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Cataract, Optic atrophy, Abnormal circulating cholesterol concentration OMIM:270800
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathe... ORPHA:79443
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... OMIM:300476
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Oculogyric crisis... ORPHA:94093
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... OMIM:609260
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Woolly Hair
Abnormal pupil morphology, Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow,... ORPHA:170
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Alopecia, Hyperphosphatemia, Obesity, Abnormal hair quantity ORPHA:457059
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... ORPHA:64753
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Postural tremor, Optic atrophy, Retinal telangiectasia ORPHA:104
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Graves Disease, Susceptibility To, 1
Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... OMIM:275000
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:608594
Smith-Magenis Syndrome
Synophrys, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Increased body weight OMIM:182290
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm... ORPHA:1617
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:269700
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the macula, Hypopigmentation of h... ORPHA:33445
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:137902
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Mandibuloacral Dysplasia
Alopecia, Contractures of the large joints, Increased circulating free fatty acid level, Increase... ORPHA:2457
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Decreased nerve co... ORPHA:101082
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Dystonia, Optic atrophy ORPHA:385
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... OMIM:609734
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma, Hypercholesterolemia OMIM:144010
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia OMIM:252650
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Obesity, Dystonia, Hy... OMIM:616267
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Retinitis Pigmentosa
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,... ORPHA:791
Cystinosis
Retinopathy, Hypokalemia, Hypophosphatemia, Failure to thrive, Corneal opacity ORPHA:213
Renal Glucosuria
Glycosuria, Polyphagia, Polydipsia OMIM:233100
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Enlarg... OMIM:151660
Cofs Syndrome
Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp... ORPHA:1466
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Temple Syndrome
Flexion contracture, Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholes... OMIM:616222
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... ORPHA:280365
Congenital Generalized Lipodystrophy
Increased C-peptide level, Adipose tissue loss, Lipodystrophy, Failure to thrive, Hypercholestero... ORPHA:528
Macrosomia Adiposa Congenita
Polyphagia, Adrenocortical adenoma OMIM:248100
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t... ORPHA:91500
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... OMIM:207750
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Action tremor, Hypercholesterolemia, Obesity ORPHA:77296
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Astigmatism, Hypercholesterolemia, Papi... OMIM:619471
Smith-Magenis Syndrome
Synophrys, Obesity, Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, ... ORPHA:819
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Elevated circulating acylcarnitine concentration, Dystonia, Optic atrophy ORPHA:26792
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Macular h... ORPHA:91495
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Intention tremor, Cataract, Decre... OMIM:612674
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Lissencephaly 8
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis... ORPHA:2298
Prune1-Related Neurological Syndrome
Cataract, Retinopathy, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:544469
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Iridodonesis, Abnormal a... ORPHA:2479
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Neonatal hypoglycemia, Decreased response to growth h... OMIM:606407
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal c... ORPHA:97229
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Failure to t... ORPHA:772
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Dent Disease 2
Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration OMIM:300555
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Failure to th... OMIM:614877
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Choreoathetosis, Decreased nerve conduction velocity, Optic disc pallor, Intention... ORPHA:98890
Megalocornea-Mental Retardation Syndrome
Megalocornea, Hypoplasia of the iris, Hypercholesterolemia, Iridodonesis, Low anterior hairline OMIM:249310
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism OMIM:617119
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensor... OMIM:609541
Schaaf-Yang Syndrome
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Arthrogryposis multipl... OMIM:615547
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Coloboma, Optic atrophy, Elevated circulating creatine kinase concentration, Optic ... ORPHA:370959
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Multiple jo... ORPHA:320406
Cog4-Cdg
Failure to thrive in infancy, Thick hair, Hypercholesterolemia ORPHA:263501
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Optic atrophy, Elevated circulating creatine kinase concentration, O... ORPHA:254886
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia, Obesity ORPHA:280651
Pick Disease Of Brain
Disinhibition, Polyphagia OMIM:172700
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... OMIM:160565
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt... OMIM:609033
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... OMIM:152950
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Vaginal hernia ORPHA:3173
Spinocerebellar Ataxia 7
Macular degeneration, Tremor, Pigmentary retinopathy, Optic atrophy OMIM:164500
Zika Virus Disease
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... ORPHA:448237
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Hsd10 Mitochondrial Disease
Choreoathetosis, Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic at... OMIM:300438
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concentration, Failure to thr... ORPHA:411629
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmentation ... ORPHA:3214
Wildervanck Syndrome
Low posterior hairline, Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Optic atrophy, Elevated circulating creatine k... OMIM:253800
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Choreoathetosis, Failure to thrive, Aplasia of the left hemidiaphragm, Dystonia OMIM:618238
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Optic atrophy, Mildly elevated creatine kinase, Peripheral axonal neuropathy, Dys... ORPHA:401768
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract ORPHA:272
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... OMIM:605814
Dysbetalipoproteinemia
Corneal arcus, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concen... ORPHA:412
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... OMIM:600132
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Huntington Disease
Choking episodes, Agitation, Polyphagia, Disinhibition, Alcoholism, Oral-pharyngeal dysphagia ORPHA:399
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Optic atrophy OMIM:619052
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Small for gestational age, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Hyperlipoproteinemia, Type I
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... OMIM:238600
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Frontotemporal Dementia
Disinhibition, Polyphagia OMIM:600274
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea... ORPHA:457205
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Retinopathy, Optic atrophy, Abnormal macular morphology, Camptodactyly,... OMIM:608799
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Peripheral axonal neuropathy, Corneal opacity, Dystonia OMIM:617183
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... OMIM:277460
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased facial adipose tissue, Flexion contracture, Sparse scalp hair, Calcinosis, Re... OMIM:248370
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Leber optic atrophy, Optic atrophy OMIM:500001
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Overweight, Highly arched eyebrow, Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia ORPHA:96184
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma ORPHA:163937
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Optic atrophy, Retinal dystrophy, Abnormal op... ORPHA:899
Sitosterolemia 1
Reduced haptoglobin level, Corneal arcus, Elevated circulating sitosterol concentration, Xanthela... OMIM:210250
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract, Abnormal hair morph... ORPHA:324737
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Ca... OMIM:614643
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia ORPHA:411515
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Flexion contracture, Optic disc pallor OMIM:619328
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... OMIM:615233
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:398073
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Increased circ... OMIM:300942
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Alg8-Cdg
Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca... ORPHA:79325
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atrophy, Attenuatio... OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia OMIM:616521
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia ORPHA:93160
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Decreased body we... ORPHA:340
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Small for gestational age, Failure to thrive, Hyperammonemia, Dys... OMIM:614702
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok... OMIM:616881
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Hypercalcemia ORPHA:99879
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia OMIM:227810
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Dystonia ORPHA:79312
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Neonatal Adrenoleukodystrophy
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Lysosomal Acid Lipase Deficiency
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:278000
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Microcornea, Failure to thrive, Cataract, Chorioretinal ... OMIM:118450
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei... ORPHA:398069
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... OMIM:300578
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398079
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology... ORPHA:1021
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia OMIM:264700
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Hypocalcemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Failure to thrive, Hypophosphatemia, Hypophosphatemic... OMIM:241530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hyperammonemia, Dystonia, Optic atrophy ORPHA:289916
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Hypophosphatemia, Alopecia universalis, Failure to thrive, Hypocalcemic seizures OMIM:277440
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Failure to thrive in infancy, Retinopathy, Weight loss, Decreased pl... OMIM:219800
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hyperammonemia, Dystonia, Optic atrophy OMIM:614739
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Triple A Syndrome
Iris coloboma, Optic atrophy, Motor axonal neuropathy ORPHA:869
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Hyperprolinemia, Optic disc pallor OMIM:619170
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy, Failure to thrive, Cataract, Hypertrichosis OMIM:612379
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thrive, Abnormal... ORPHA:411634
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Cataract, Optic atrophy ORPHA:559
Jaberi-Elahi Syndrome
Sparse eyebrow, Optic atrophy, Brittle hair, Choreoathetosis, Fine hair, Failure to thrive, Catar... OMIM:617988
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia ORPHA:228402
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia ORPHA:209902
Alport Syndrome 3, Autosomal Dominant
Azotemia, Anterior polar cataract, Hypophosphatemia, Lenticonus OMIM:104200
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentrat... ORPHA:95433
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... OMIM:615812
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Hypercholesterolemia, Hyperaldosteronism, Sparse scalp hair, Lentiglob... ORPHA:534
Hereditary Fructose Intolerance
Hypophosphatemia, Cataract, Hyperuricemia, Hypermagnesemia ORPHA:469
Congenital Sialidosis Type 2
Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Developmental cataract,... ORPHA:93400
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Cachexia, Attenu... OMIM:610965
Short Syndrome
Abnormal pupil morphology, Alopecia, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia... ORPHA:3163
Hyperekplexia 2
Astigmatism, Exaggerated startle response, Hiatus hernia OMIM:614619
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Enamel hy... OMIM:307800
Man1B1-Cdg
Polyphagia ORPHA:397941
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy OMIM:616562
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, H... ORPHA:363618
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... OMIM:619743
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... OMIM:268315
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Inguinal hernia, Catara... ORPHA:93399
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... OMIM:309000
Juvenile Paget Disease
Hyperuricemia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Colchicine Poisoning
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc... ORPHA:31824
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v... ORPHA:2715
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic atrophy, Choreoathetosis, Failure to thrive, Optic neuropathy, Optic disc ... OMIM:618249
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:370
Cinca Syndrome
Papilledema, Elevated circulating C-reactive protein concentration, Uveitis OMIM:607115
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... OMIM:535000
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:600740
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... ORPHA:264580
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, Optic dis... ORPHA:423479
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... ORPHA:585
Mevalonic Aciduria
Attenuation of retinal blood vessels, Elevated circulating creatine kinase concentration, Failure... OMIM:610377
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Elevated circulating creatine kinase conc... OMIM:236670
Birk-Landau-Perez Syndrome
Optic atrophy, Choreoathetosis, Hyperkalemia, Long eyelashes, Dystonia, Increased circulating cre... OMIM:617595
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph... ORPHA:251937
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pearson Syndrome
Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Corneal stromal edema,... ORPHA:699
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... OMIM:617301
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... OMIM:176270
Trichothiodystrophy 4, Nonphotosensitive
Trichorrhexis nodosa, Optic atrophy, Brittle hair, Keratoconjunctivitis sicca, Microcornea, Wooll... OMIM:234050
Wolfram Syndrome 1
Cataract, Tremor, Pigmentary retinopathy, Optic atrophy OMIM:222300
Incontinentia Pigmenti
Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Retinal vascular proliferation, Optic at... OMIM:308300
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Polyphagia, Abnormal dental enamel morphology ORPHA:251004
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hypophosphatemia, Hip contracture, Hypercalcemia OMIM:156400
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Rod-cone dystrophy, Weight loss, Opisthotonus, Optic disc pallor, Pigmentar... ORPHA:216866
Cockayne Syndrome Type 1
Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Abnormality of peripheral nerve conduc... ORPHA:90321
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Failure to thrive, Athetosis, Limb joint contracture, Craniofacial ... OMIM:617282
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina... ORPHA:2969
Atypical Werner Syndrome
Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... ORPHA:79474
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Decreased body weight, Optic atrophy... ORPHA:96180
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... ORPHA:3205
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia OMIM:617864
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Mildly elevated creatine kinase, Tremor, Lipoma, Optic disc pallor, Pigmentary retinopathy, Thick... ORPHA:502423
Keppen-Lubinsky Syndrome
Flexion contracture, Decreased serum leptin, Generalized lipodystrophy, Lack of facial subcutaneo... OMIM:614098
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Large for gestational age, Hypouricemia OMIM:616026
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... ORPHA:90674
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... ORPHA:1764
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Ocular albinism, Albinism, Silver-gray hair, Astigmatism, Hypoplas... OMIM:614077
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Weight loss, Transient hypophos... ORPHA:79102
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam... ORPHA:1873