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Gene: Wwox MGI:1931237

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

WW domain-containing oxidoreductase

Synonyms:

WOX1, 9030416C10Rik, 5330426P09Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wwox 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.

Human diseases associated with Wwox (7 diseases)
Human diseases predicted to be associated with Wwox (2733 diseases)

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

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia	OMIM:614322
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Tremor, Unsteady gait, Cerebral atrophy, Seizure, Status epilepticus, Myoclo...	ORPHA:442835
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Developmental And Epileptic Encephalopathy 28	Seizure, Status epilepticus, Cerebral atrophy	OMIM:616211

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

Disease	Matching phenotypes	Source
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc...	OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc...	OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Abnormal ...	OMIM:162350
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Han...	OMIM:617862
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Depression, Seizure, Bradykinesia, Gliosis, Neuronal los...	OMIM:143100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Myoclonus...	OMIM:600795
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Ambiguo...	ORPHA:90791
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Seizure, Agitation	OMIM:141500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly...	ORPHA:289548
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita...	ORPHA:90794
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Reduced bone min...	ORPHA:168558
Pseudohypoparathyroidism, Type Ic	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseu...	OMIM:612462
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia	OMIM:615945
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ...	OMIM:618090
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, D...	OMIM:618093
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Seizure, Inappropriate laughter, Gait ataxia	OMIM:619323
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Dystonia, Aggressive beha...	OMIM:607136
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial...	OMIM:611694
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Depression, Gait ataxia, Seizure,...	ORPHA:71517
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Weight loss, Pr...	ORPHA:248111
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Pseudohypoparathyroidism, Type Ia	Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, ...	OMIM:103580
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Truncal ataxia, Limb ataxia, Choreoathetosis,...	OMIM:616230
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei...	OMIM:600143
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Dys...	OMIM:312080
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Oslam Syndrome	Neoplasm, Osteosarcoma	OMIM:165660
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee...	OMIM:608636
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Seizure, Ataxia, Generalized myoclonic seizure	OMIM:614706
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons...	OMIM:619605
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-...	OMIM:618917
Pseudopseudohypoparathyroidism	Short stature, Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulat...	ORPHA:79445
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Episodic Ataxia, Type 9	Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ...	OMIM:618924
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Anemia	ORPHA:100025
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Seizure, Hyperactivity, Ataxia	OMIM:613402
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Short stature, Crypto...	ORPHA:163976
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy, Seizure, Failure to thrive	OMIM:615596
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia	ORPHA:217012
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Dysphagia	OMIM:613925
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ...	ORPHA:330050
Spinocerebellar Ataxia 43	Ataxia, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis atrophy	OMIM:617018
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis...	OMIM:612526
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Seizure, Myoclonus, Intention tremor	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia	OMIM:614322
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Short stature	ORPHA:2204
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait	OMIM:605388
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi...	ORPHA:199299
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio...	ORPHA:57196
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Autosomal Spastic Paraplegia Type 30	Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Distal sensory impairment, Diff...	ORPHA:101010
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:85138
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Myoclonus, Atroph...	ORPHA:225154
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth r...	ORPHA:2323
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circulating ferritin...	ORPHA:465508
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Short Stature Due To Ghsr Deficiency	Short stature, Abnormality of body weight, Hypoglycemia, Growth delay, Decreased body weight, Del...	ORPHA:314811
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dyst...	OMIM:605361
Autosomal Recessive Spastic Paraplegia Type 32	Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Difficulty walking, Ce...	ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Generalized dystonia, Ataxia, Corpus callosum atrophy, Inability to walk, Sei...	OMIM:619389
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiad...	OMIM:604326
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cere...	OMIM:614254
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
2P21 Microdeletion Syndrome	Hypoglycemia, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Chorea, Cerebral atrophy, Irritability, Seizure, Cerebellar vermis atrophy	OMIM:613811
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Depression, Gl...	OMIM:618369
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556037
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Infantile spasms, Cerebral atrophy, Athetosis, Irritability, Seizure, Dystoni...	OMIM:617132
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556030
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy	ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Growth delay, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosp...	OMIM:619073
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Craniosynostosis, Thro...	OMIM:259700
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperaldosteronism, Increased circulating...	OMIM:214700
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen...	OMIM:617872
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Focal-ons...	OMIM:204300
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk	OMIM:618468
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity, T...	OMIM:619028
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H...	ORPHA:36913
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Gait ataxia, Central nervous system degeneration, Progressive cerebellar ataxia, ...	ORPHA:282166
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte...	OMIM:256731
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Neon...	OMIM:101800
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Decreased skull ossification, Cortical thickening of long bone diap...	ORPHA:93324
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Gait disturbance	ORPHA:98766
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
X-Linked Intellectual Disability, Cilliers Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypospadias, Short st...	ORPHA:163971
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Dysmetria, Cerebral atrophy, Chore...	OMIM:618088
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cr...	OMIM:614732
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s...	ORPHA:94089
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Nescav Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy	OMIM:614255
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Trun...	ORPHA:363710
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Seizure, Gliosis, Global brain atrophy	OMIM:236792
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Osteosarcoma	OMIM:260500
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Decreased liver function, Difficulty walking, ...	ORPHA:512260
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Dysphagia, Intention tremor, Action tremor	OMIM:302500
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy	OMIM:611252
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Short stature, Limitation of joint mobility	ORPHA:166277
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure	OMIM:615705
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Seizure, Brain atrophy	OMIM:618741
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:203330
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Ataxia, Impaired proprioception, Dysmetria, Pseudobulbar paralys...	OMIM:613908
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Cerebral ...	OMIM:617493
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi...	ORPHA:249
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Hyp...	OMIM:617053
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Decreased skull ossification, Cortical thickening of...	ORPHA:93325
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H...	ORPHA:90790
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Bilateral tonic-clonic seizure, Decreased response to growth hormone s...	ORPHA:457240
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Hypoplasia of the pons, Fo...	OMIM:619301
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decre...	OMIM:614559
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste...	ORPHA:53
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G...	OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Irritability, Dystonia, Failure to thrive	OMIM:618237
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort...	ORPHA:171876
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level...	OMIM:610600
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Seizure, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy	OMIM:618730
Cholestasis, Progressive Familial Intrahepatic, 10	Short stature, Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentr...	OMIM:619868
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Brady...	OMIM:300423
Eiken Syndrome	Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo...	ORPHA:79106
Congenital Disorder Of Glycosylation, Type Iiz	Seizure, Diffuse cerebellar atrophy	OMIM:620201
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai...	OMIM:609056
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Cerebral atrophy, Dysphagia...	OMIM:617435
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ...	ORPHA:562
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Dystonia, Failure to thriv...	OMIM:618276
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Slender build, Aggressive behavior	OMIM:617709
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Epileptic spasm, Ataxia, Seizure, Cerebellar hypoplasia, Attention deficit hy...	OMIM:619971
Periventricular Nodular Heterotopia 8	Seizure, Cerebellar vermis atrophy	OMIM:618185
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hyp...	ORPHA:93160
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior, Depression	OMIM:603204
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Short stature, Abnormal v...	ORPHA:2315
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Developmental And Epileptic Encephalopathy 31A	Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inabili...	OMIM:616346
Gracile Bone Dysplasia	Short stature, Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure ...	OMIM:602361
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypopro...	OMIM:256300
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Gait ataxia, Seizure, Myoclonus, Dystonia	OMIM:607317
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Seizure, Hypoplasia of the pons, Cerebral atrophy	OMIM:618973
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp...	OMIM:264700
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Generalized myoclonic seizure	OMIM:610951
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab...	OMIM:617171
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe...	OMIM:224050
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Seizure, Cerebral atrophy, Dystonia	OMIM:617899
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Chiari type I malformation, Bradykinesia, Dystoni...	OMIM:617836
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I...	OMIM:601198
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Increased extraneuronal autofluorescent lipopigment, Increased ne...	OMIM:204200
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Flexion contracture, Hypoproteinemia	OMIM:608093
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabe...	ORPHA:79083
Burkitt Lymphoma	Hyperuricemia, Abnormality of the ovary	ORPHA:543
Galloway-Mowat Syndrome 6	Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoalbuminem...	OMIM:618347
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal o...	ORPHA:289157
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Oslam Syndrome	Osteosarcoma	ORPHA:2760
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Abnormality of the tonsils, ...	ORPHA:47
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl...	OMIM:619302
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici...	ORPHA:3464
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Juvenile Paget Disease	Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse met...	ORPHA:2801
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Pancreatitis...	ORPHA:247585
Paget Disease Of Bone 3	Osteosarcoma	OMIM:167250
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,...	ORPHA:263516
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig...	ORPHA:79263
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia	ORPHA:364
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonatal death, C...	OMIM:608104
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Shyness, Overweight, Seizure, Difficulty walking, Dystonia, Ab...	ORPHA:280763
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Insulin res...	ORPHA:73272
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Dysmetria, Progressive cerebellar ataxia, Progressive gait ...	ORPHA:284332
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ...	ORPHA:101039
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ...	ORPHA:95512
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Dysphagia, Sei...	OMIM:617672
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ...	OMIM:607346
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Failure to thrive, D...	OMIM:203400
Exostoses, Multiple, Type Ii	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133700
Landau-Kleffner Syndrome	Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz...	ORPHA:98818
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar atax...	ORPHA:276193
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Cln3 Disease	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz...	ORPHA:228346
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Birth length less than 3rd percentile, Hypocalcemia, Hypomagnesemia,...	OMIM:244460
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane...	ORPHA:77297
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Toot...	ORPHA:89937
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Hyperc...	ORPHA:95409
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, I...	OMIM:617166
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Dysmetria, Seizure, Atrophy/Degeneration...	OMIM:617954
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the ute...	ORPHA:1655
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Irritability, Seizure, Brain atrophy, Dysphag...	OMIM:618226
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Short stature, Hypoalbuminemia, Hypopituitarism, Hypothyroidism, Joint hype...	OMIM:619013
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Growth delay, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Ankylosis, Hydrox...	OMIM:239000
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Gli...	OMIM:203700
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased c...	ORPHA:2298
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Abnormal cerebellum morphology, Unste...	ORPHA:98762
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Gait at...	ORPHA:101110
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Depression, Difficulty walking, Cerebral cortical atrophy	OMIM:619425
Proteus Syndrome	Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Calvarial hyperostosis, Facial hyp...	OMIM:176920
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:99330
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ...	OMIM:615400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Ataxia, Aggressive behavior, Atroph...	ORPHA:228360
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Aggressive behavior, Di...	OMIM:617225
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, H...	OMIM:232700
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff...	OMIM:617575
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G...	ORPHA:36387
Christianson Syndrome	Cerebellar atrophy, Generalized-onset seizure, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappr...	ORPHA:85278
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Inability to walk, Athetosis, Seizure, Irritability, Gait disturbance, Myoclo...	OMIM:618241
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer...	OMIM:609924
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Clonic seizure, Chorea, Frontotemporal cerebral atr...	ORPHA:79097
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Generalized tonic ...	OMIM:611603
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, ...	OMIM:614487
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Dysmetria, Gait ...	OMIM:614831
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short s...	OMIM:259720
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Athetosis, Self-injurious behavior, Seizure, Cerebellar hypoplasia, D...	OMIM:619922
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired s...	OMIM:619738
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Short stature, Hypoglycemia, Osteoporosis, Growth delay, Delayed puberty, Failure to ...	ORPHA:369
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Spinocerebellar Ataxia Type 43	Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:497764
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of speci...	ORPHA:79324
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Gout, Hyperuricemia, Cholelithiasis, Increase...	OMIM:232800
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy...	ORPHA:93952
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda...	OMIM:620366
Microlissencephaly	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical atrophy	ORPHA:1083
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in central nervous system	ORPHA:204
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia	OMIM:262700
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Truncal ataxia, Intention tremor	OMIM:616948
Stxbp1-Related Encephalopathy	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Depression, Gait ataxia, ...	ORPHA:98764
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Chorea, Dysmetria, Weight loss, Gait ataxia, Depression, Seizur...	ORPHA:157941
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cere...	OMIM:618497
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Elevated circulating aspartate aminotra...	OMIM:271245
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os...	OMIM:212750
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairme...	OMIM:616719
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s...	OMIM:617113
Premature Aging Syndrome, Okamoto Type	Neoplasm, Osteosarcoma	OMIM:601811
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia, Loss of amb...	OMIM:617916
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia	OMIM:615768
Short Stature Due To Partial Ghr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314802
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Abnormal cerebellar cortex morphology, Distal sensory impairment, Gait a...	ORPHA:101111
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady gait...	ORPHA:98761
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, ...	OMIM:615157
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Short ...	OMIM:241200
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, In...	OMIM:619795
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus	OMIM:619303
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
Cog7-Cdg	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Jaund...	ORPHA:79333
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Short stature, Cachexia, Splenomegaly, Type II diabetes ...	ORPHA:1133
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Primary Intestinal Lymphangiectasia	Weight loss, Growth delay, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:90362
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Seizure, Myoclonus, Generalized...	OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gli...	OMIM:213200
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, St...	ORPHA:2232
Maffucci Syndrome	Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g...	ORPHA:163634
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Seizure, Ataxia	OMIM:618879
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Epileptic spasm, Inability to walk, Seizure, Dysphagia	OMIM:617086
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra...	OMIM:607250
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Post...	ORPHA:453533
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Glycogen Storage Disease Ixb	Growth delay, Short stature, Hyperuricemia, Hypoglycemia	OMIM:261750
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Hand tremor, Depression, Neurodegeneration, Dystonia	OMIM:615889
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Cry...	ORPHA:408
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Cerebellar hypoplasia, ...	ORPHA:488635
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Impaired T cell function, Decreased serum zinc, Hypogonadism, Decreased serum test...	OMIM:201100
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Aggressive behavior, Tremor, Cerebral atrophy, Bradykinesia, Seizure, Dystonia	ORPHA:329284
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokines...	ORPHA:313772
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax...	ORPHA:168491
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Short stature, Hyperammonemia, Centra...	ORPHA:1667
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:245570
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Diabetes mellitus	OMIM:602475
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr...	OMIM:619639
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Alg6-Cdg	Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and...	ORPHA:79320
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia	ORPHA:139485
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se...	ORPHA:382
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Cerebral atrophy, Myoclonic seizure, Self-injurious behavior, Abnormal repeti...	OMIM:619690
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Seizure, Neurodegeneration, Gliosis,...	OMIM:256600
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper...	OMIM:619191
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm...	OMIM:618183
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Hypothyroidism, Short stature, Osteoporosis, Increased suscept...	ORPHA:79259
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f...	OMIM:603553
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cryptorchidism, Athetosis, Dystonia, Failure...	OMIM:619310
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Foxg1 Syndrome	Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal...	ORPHA:561854
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, ...	OMIM:235255
Glycogen Storage Disease Ia	Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Xanthelasma, Hyper...	OMIM:232200
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A...	OMIM:241600
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait...	ORPHA:208513
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Seizure, Ataxia	OMIM:617207
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st...	ORPHA:2097
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Progressive ce...	OMIM:605259
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Continuous Spikes And Waves During Sleep	Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-on...	ORPHA:725
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Gait disturbance, Dysphagia, Failure to th...	ORPHA:309162
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-...	OMIM:618170
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia	ORPHA:284271
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Status epilepticus, Myoclonus, Dystonia, Generalized myoclonic seizure,...	ORPHA:352596
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myo...	ORPHA:98763
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,...	OMIM:226750
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Intention tremor	OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait	OMIM:618387
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Limb ataxia,...	ORPHA:284324
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o...	ORPHA:97289
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Dysmetria, Seizure, Atrophy/Degeneration affecting the brainstem, F...	OMIM:618404
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Knee flexion contrac...	OMIM:620232
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggress...	OMIM:619580
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a...	ORPHA:180229
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia	ORPHA:139406
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizu...	OMIM:618012
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Stillbirth, Neonatal hypoproteinemia	OMIM:152800
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas...	ORPHA:100083
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis	ORPHA:2591
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Failure to thrive	OMIM:616494
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Cryptorchid...	ORPHA:485350
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c...	OMIM:618067
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera...	OMIM:618156
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Hypophosphatasia	Short stature, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures...	ORPHA:436
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypothyroidism, Decreased circulating antibody level, Growth delay, Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Ataxia, Dysesthesia, Corpus callosum atrophy, Unsteady gait, Limb tremor, Dys...	OMIM:614877
Partington Syndrome	Macroorchidism	ORPHA:94083
Mast Syndrome	Cerebellar atrophy, Cerebral atrophy, Athetosis, Dysdiadochokinesis, Gait disturbance, Dysphagia	OMIM:248900
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I...	ORPHA:1979
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of th...	ORPHA:324575
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Splenomegaly, Cere...	OMIM:610333
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia	OMIM:610539
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati...	ORPHA:95716
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Short stature, Cryptorchidism, Elbow flexion contractur...	OMIM:618440
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Cerebellar vermis at...	OMIM:620158
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Epilepsia partialis continua, Chorea, Cerebral atrophy, Seizure, Status epile...	OMIM:618567
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Abnormal cerebellar peduncle morphology, Cerebellar atrophy, Cerebe...	ORPHA:98
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Clitoral hypertrophy, Hypoglycemia, Fused labia minora	OMIM:608688
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Reduced radioactive iodine uptake...	ORPHA:90674
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Seizure, Dysphagia, Palatal tremor, Failure to thrive	ORPHA:363717
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Intrauterine g...	OMIM:617056
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Intention tremor	OMIM:613728
Mepan Syndrome	Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebr...	ORPHA:508093
Edinburgh Malformation Syndrome	Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Intention tremor	OMIM:615386
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Short stature, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Cer...	OMIM:616672
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Difficulty walking	ORPHA:468661
Lambert Syndrome	Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia, Aplasia/Hypopl...	ORPHA:1296
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay, Hypoalbumi...	OMIM:246700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Cerebral atrophy, Irritability, Seizure, Limb dystonia	OMIM:619125
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Short stature, Cryptorchidism, Hyperkalemia, Growth dela...	ORPHA:97362
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia	ORPHA:75233
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Cerebral atrophy, Seizure, Dystonia, Failure to thrive	OMIM:300475
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pont...	OMIM:616053
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ...	OMIM:117360
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Global brain atr...	OMIM:613721
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Wide anterior fontanel, Elevated circulating long chain fatty acid concentration, ...	OMIM:614886
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Osteolysis, Increased suscepti...	ORPHA:52430
Glycogen Storage Disease Ib	Pancreatic fibrosis, Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma...	OMIM:232220
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small scrotum, Hypospadias, Small for gestational age, Rhizomeli...	OMIM:607143
Hereditary Methemoglobinemia	Cerebellar atrophy, Small for gestational age, Temporal cortical atrophy, Athetosis, Seizure, Lim...	ORPHA:621
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un...	OMIM:616409
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Dystonia, Ataxia, Cerebral atrophy, Athetosis, Seizure, Dysphagia, Loss of am...	OMIM:617951
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral...	OMIM:618235
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy	OMIM:618501
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Short stature, Hyperbilir...	OMIM:620010
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Tremor, Scissor gait, Oromandibular dystonia, Cerebral atrophy, Bradykinesia,...	ORPHA:521406
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Focal Cortical Dysplasia, Type Ii	Focal impaired awareness seizure, Astrocytosis	OMIM:607341
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Seizure, Inability to walk	OMIM:618324
Solitary Fibrous Tumor	Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Pro...	ORPHA:2126
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia, Failure to thrive in infancy, Elevated circulating aspartate aminotra...	OMIM:611182
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sen...	OMIM:159550
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ...	ORPHA:217260
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Short stature, Elevated circulating lutein...	OMIM:305400
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Weight loss, Neoplasm of the liver, Anemia	ORPHA:69077
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In...	ORPHA:86816
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp...	OMIM:277440
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Torticollis, Impaired temperature sensation, Im...	OMIM:619686
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Seizure	ORPHA:320385
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Aggressive behavior, Dysmetria, Seizure, Dysdiadochokinesis, Myoclonu...	OMIM:618356
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon...	OMIM:618412
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Seizure, Dysdiadochokinesis, Neurodegeneration, ...	OMIM:612319
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Cerebral atrophy, Gait ataxia, Seiz...	ORPHA:1947
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Cerebral atrophy, Waddling gait	OMIM:619090
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Lesch-Nyhan Syndrome	Hyperuricemia, Gout	ORPHA:510
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Seizure, Dandy-Walker malformation, Inability to walk	ORPHA:438178
Dentin Dysplasia	Increased bone mineral density, Exostoses	ORPHA:1653
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Intrauterine growth retardation	ORPHA:48431
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Cerebellar vermis hypoplasia, Generalized-onset seizure, Cerebral atrophy, Se...	OMIM:611523
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Osteolysis	ORPHA:494
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Laron Syndrome	Hypoplasia of penis, Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Ost...	ORPHA:633
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni...	ORPHA:352582
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Gerstmann-Straussler Disease	Cerebellar atrophy, Aggressive behavior, Tremor, Limb ataxia, Weight loss, Gait ataxia, Depressio...	OMIM:137440
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Osteopenia, Decreased serum testosterone concentration, Premature ovari...	ORPHA:2959
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Somatic sensory dysfunction, Gait ataxia, Hepatosplenomegaly, Progressive ...	ORPHA:466794
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Short Stature, Dauber-Argente Type	Osteopenia, Short stature, Postnatal growth retardation, Fasting hyperinsulinemia, Reduced bone m...	OMIM:619489
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat...	ORPHA:157215
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Gliosis, Cerebe...	OMIM:225753
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im...	OMIM:615859
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Argininemia	Cerebellar atrophy, Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, I...	OMIM:207800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu...	OMIM:241530
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, ...	OMIM:272300
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Cryptorchidism, Abnormal circulating cre...	ORPHA:319332
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy	OMIM:212840
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Astrocytosis, Seizure, Difficulty walking, Slender build	OMIM:611087
Rasmussen Subacute Encephalitis	Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse...	ORPHA:1929
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Depression, Bradykinesia...	ORPHA:254886
Cystic Echinococcosis	Eosinophilia, Abnormality of the testis size, Bone cyst, Weight loss, Ovarian cyst, Increased cir...	ORPHA:400
Spinocerebellar Ataxia 10	Cerebellar atrophy, Limb ataxia, Distal sensory impairment, Dysmetria, Progressive cerebellar ata...	OMIM:603516
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to...	ORPHA:79243
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor...	ORPHA:2238
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Failure to thrive, Ce...	OMIM:617082
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Short stature, Recurrent fractures, Osteolysis, Azoosper...	ORPHA:168569
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Hypercalcemia, Craniosynostosis, Recurrent fractures, Obesity, Increased blood ure...	ORPHA:251004
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Snakebite Envenomation	Hyponatremia, Hypopituitarism	ORPHA:449285
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Short stature, Hypoglycemia, Large for gestational age, Rickets,...	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer...	OMIM:614946
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Dystonia	OMIM:618425
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Trem...	ORPHA:289494
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Multifocal seizures, Upper limb postural tremor, Status epilepticus, Dy...	ORPHA:477774
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy	OMIM:616721
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Adrenal insufficienc...	ORPHA:427
Polymicrogyria, Bilateral Temporooccipital	Focal impaired awareness seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal o...	OMIM:612691
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Hemangiomatosis, Osteolysis involving bones of the upper limbs, Osteol...	ORPHA:73
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Action tremor, Imp...	OMIM:300623
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Cerebral atrophy, Bradykinesia, Seizur...	OMIM:300894
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Head titubation, Cerebral atrophy, Seizure, Difficulty w...	ORPHA:527497
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Corpus callosum atrophy, Depression, Bradykinesia, Seizure, Gliosis,...	OMIM:221820
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat...	OMIM:616113
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Spastic gait	OMIM:607565
Autoinflammation With Infantile Enterocolitis	Short stature, Elevated circulating C-reactive protein concentration, Reduced natural killer cell...	OMIM:616050
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal c...	ORPHA:329308
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon...	ORPHA:95717
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Postnatal g...	OMIM:617093
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis...	ORPHA:324964
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk	OMIM:618006
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age	OMIM:601820
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Depression, Seizure, Myoclo...	ORPHA:79264
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Dysmetria, Seizure, Dysphagia, Los...	OMIM:607694
Cach Syndrome	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Dysmetria, Cerebra...	ORPHA:135
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Dysphagia	ORPHA:496689
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Choreoathetosis, Limb d...	OMIM:619054
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost...	ORPHA:371428
Cystinosis	Short stature, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type I dia...	ORPHA:213
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Spinocerebellar Ataxia Type 2	Postural tremor, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebellar Purkinje lay...	ORPHA:98756
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff...	OMIM:619386
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Osteolysis, Osteolytic defects of ...	ORPHA:90154
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Progressive cerebellar ataxia, Prog...	ORPHA:101112
Lesch-Nyhan Syndrome	Podagra, Testicular atrophy, Hyperuricemia, Short stature	OMIM:300322
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General...	ORPHA:86909
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Ataxia, Spastic gait, Dysmetria	OMIM:610357
Immunodeficiency 27A	Weight loss, Increased circulating IgG level, Increased circulating IgM level, Salmonella osteomy...	OMIM:209950
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi...	OMIM:202010
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Webb-Dattani Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:615926
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Rickets, Hypophosphatemic rickets, Elevated ci...	OMIM:612089
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O...	OMIM:300148
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Postnatal growth retardation, Rickets, Hypophosphatemia, Glycosuria, ...	OMIM:227810
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Dystonia, Dysphagia, Progressive cerebellar ataxia, Prolonged neonatal jaundi...	OMIM:618868
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Gliosis, Cerebella...	ORPHA:168486
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia	OMIM:262400
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Ollier Disease	Precocious puberty, Osteolysis, Joint stiffness	ORPHA:296
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu...	OMIM:619405
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in i...	ORPHA:37042
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Abnormal ne...	ORPHA:163681
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Xanthoma Disseminatum	Diabetes insipidus, Osteolysis	ORPHA:158003
Whipple Disease	Hyponatremia, Cachexia, Insulin resistance, Arthritis, Erectile dysfunction, Hypothyroidism	ORPHA:3452
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decre...	ORPHA:276575
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Trunca...	OMIM:210000
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Short stature, R...	OMIM:219800
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating g...	ORPHA:243
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Ins...	ORPHA:90153
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Decreased circulating IgG level, Premature ovarian insufficiency, Hypergonadotropic h...	OMIM:212065
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Moynahan Syndrome	Short stature, Hypogonadism, Cachexia	ORPHA:2574
Renpenning Syndrome	Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Growth delay, De...	ORPHA:3242
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar v...	ORPHA:98755
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Ramon Syndrome	Failure to thrive, Diabetes mellitus, Osteolysis	ORPHA:3019
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ...	ORPHA:276556
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Seizure, Ataxia, Gait disturbance	ORPHA:85317
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention defici...	OMIM:301029
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Epileptic spasm, Supernumerary nipple, Corpus callosum atrophy, Focal-onset s...	OMIM:617339
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce...	ORPHA:276580
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy...	ORPHA:2495
Galactokinase Deficiency	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Hypog...	ORPHA:79237
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu...	ORPHA:77299
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ...	OMIM:614229
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I...	OMIM:616645
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:610127
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Cerebral atrophy, Dysme...	OMIM:611302
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar...	ORPHA:93111
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Dysmetria, Distal sensory impairment, Gai...	OMIM:616505
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, M...	OMIM:617290
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Cachexia	ORPHA:1438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra...	ORPHA:264580
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur...	ORPHA:398079
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Cadds	Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Seizure, Dystonia	ORPHA:369942
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor...	ORPHA:813
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Bachmann-Bupp Syndrome	Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur...	OMIM:617711
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ...	OMIM:614880
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait...	OMIM:617145
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	ORPHA:435934
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My...	OMIM:617976
Alg8-Cdg	Hyponatremia, Small for gestational age, Camptodactyly, Intrauterine growth retardation, Failure ...	ORPHA:79325
Fanconi-Bickel Syndrome	Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Rickets, Growth ...	ORPHA:2088
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia	OMIM:211900
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,...	OMIM:137920
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive	OMIM:269920
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia	OMIM:616171
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Cerebellar gliosis, Unsteady ga...	ORPHA:35069
Severe Canavan Disease	Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Irritability, Seizu...	ORPHA:314911
Omenn Syndrome	Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Eosinophilia	OMIM:603554
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Severe temper tantrums...	OMIM:617710
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperhidrosis, Hy...	ORPHA:94093
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure	OMIM:620317
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia	OMIM:615085
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Cerebral...	OMIM:617105
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Akinesia, Tremor, Cerebral atrophy, Granulovacuolar degeneration, ...	OMIM:601104
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Decreased b...	ORPHA:231140
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	OMIM:617395
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia, Joint stiffness	ORPHA:1144
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function	OMIM:614867
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Gout, Hyperuricemia	OMIM:300661
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Cerebellar hemisphere hypoplasia...	OMIM:615095
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Osteoporosis, Weight loss, Hypoalbuminemia, Intrauterine growth retardation, ...	OMIM:619487
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait...	OMIM:103050
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye...	OMIM:618357
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Unste...	ORPHA:98760
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ...	OMIM:616834
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Short stature, Hypohidrosis, Hypocalcemia, Hypothyroidism	ORPHA:1563
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Potocki-Lupski Syndrome	Small for gestational age, Short stature, Hypocholesterolemia, Failure to thrive, Hypothyroidism	OMIM:610883
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia	OMIM:616286
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Decreased testicular size, Broad-based gait, Ataxia, Corpus callosum atrophy,...	ORPHA:320391
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Impaired vibration sensation in the lower limbs...	OMIM:614409
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Weismann-Netter Syndrome	Severe short stature, Abnormal cortical bone morphology	ORPHA:3344
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Bilateral cryp...	OMIM:619685
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract...	OMIM:241500
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Episodic Ataxia Type 6	Cerebellar atrophy, Seizure, Ataxia	ORPHA:209967
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy...	OMIM:122860
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Postural trem...	OMIM:183090
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Loss of ambulation	OMIM:619806
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Severe temper tantrums, Dysmetria, Gait ataxia, Attention deficit hyp...	OMIM:614306
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Splenomegaly, Microno...	ORPHA:309854
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra...	ORPHA:79240
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Irritability, Torticollis, Dystonia	OMIM:619071
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora...	ORPHA:208447
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tremor, Axonal degeneration, Dysmetria, Distal sensory impairment, Hand tremo...	OMIM:302800
Combined Deficiency Of Factor V And Factor Viii	Joint hemorrhage, Hyperlipidemia, Menorrhagia, Hyperuricemia	ORPHA:35909
Fibrodysplasia Ossificans Progressiva	Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu...	ORPHA:337
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non...	OMIM:607682
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Dysphagia, Positive Rombe...	OMIM:616479
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure	OMIM:612621
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia, Obesity	ORPHA:261222
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progres...	ORPHA:1175
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158057
Timothy Syndrome	Hypothyroidism, Hypocalcemia, Hypoglycemia	OMIM:601005
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo...	OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Short stature, Conjugated hyperbilirubinemia, Rickets, Cholelithiasis, Failure to thrive	OMIM:211600
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Seizure, ...	ORPHA:309246
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis, Seizure, Global brain atrophy	OMIM:609060
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se...	OMIM:616341
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia	OMIM:617691
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Cerebra...	OMIM:610217
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria	OMIM:618384
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Postural tremor, Hypoplasia of the pons, Corpus callosum atrophy, Unsteady ga...	ORPHA:412057
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B...	ORPHA:98768
Hypophosphatemic Rickets, X-Linked Recessive	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300554
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Cryptorchidism, Cerebral atrophy, Irritability...	ORPHA:457205
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Writer's cramp, Chorea, Cerebellar Purkinje la...	ORPHA:98759
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu...	OMIM:615160
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Generalized-onset seizure, Limb ataxia, Dysmetria, Progressive cerebellar ata...	ORPHA:284289
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Depression, Gait ...	OMIM:193003
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia	OMIM:104290
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra...	OMIM:618470
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Mcdonough Syndrome	Cryptorchidism, Short stature, Cachexia	ORPHA:2471
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Brain atrophy, F...	ORPHA:369939
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d...	ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c...	ORPHA:90041
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici...	ORPHA:2047
Episodic Ataxia, Type 6	Cerebellar atrophy, Seizure, Cerebellar hypoplasia, Truncal ataxia, Episodic ataxia	OMIM:612656
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gai...	ORPHA:352403
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Cerebra...	OMIM:608027
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Spastic Paraplegia Type 7	Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs,...	ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia	OMIM:619065
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	ORPHA:739
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Seizure, Small for gestational age	OMIM:618302
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Seizure, Ataxia, Gliosis	OMIM:612936
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Glycogen Storage Disease Iii	Hyperlipidemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia	OMIM:232400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Seizure, Unsteady gait, Ataxia	OMIM:300861
Spastic Paraplegia 7, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Waddling gait, Degeneration of the lateral corticospinal trac...	OMIM:607259
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur...	ORPHA:411634
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:612438
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia, Gout	OMIM:162000
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Re...	ORPHA:2785
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:616204
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hypoglyc...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hypoglyc...	ORPHA:71526
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni...	OMIM:615851
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Peroxisome Biogenesis Disorder 3B	Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H...	OMIM:266510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced...	OMIM:620210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation	OMIM:616801
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Ca...	OMIM:618143
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Hyperg...	OMIM:307030
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Epileptic spasm, Cerebral atrophy, Myoclonus, Decreased body weight, Failure ...	OMIM:619060
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ...	ORPHA:100924
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Hypercalcemia, Short stature, Hypocalcemia	ORPHA:557003
Dengue Fever	Hypoproteinemia	ORPHA:99828
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Broad-based gait, Dysmetria, Retrocerebellar cyst, Progressive cerebe...	ORPHA:363429
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Tremor, Dysmetria...	ORPHA:1170
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dystonia	OMIM:610246
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se...	ORPHA:258
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Osteomalacia, Recurrent fractures, Rickets, Glycosuria, Elevated circu...	OMIM:613388
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill...	OMIM:308240
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi...	OMIM:618729
Dpm1-Cdg	Cerebellar atrophy, Early onset absence seizures, Hepatic steatosis, Hepatomegaly, Ataxia, Elevat...	ORPHA:79322
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Microvesicular hepatic steatosis, Chorea, Cer...	OMIM:619273
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ...	ORPHA:769
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convulsive status epilep...	OMIM:618760
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Reduced radioactive iodine uptake,...	ORPHA:90673
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Typical ab...	ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethar...	OMIM:604377
Cog8-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Seizure, Myoclonus, Atrophy/Degenerati...	ORPHA:95428
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Truncal ataxia, Limb ataxia, Limb dystonia	OMIM:617560
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ...	ORPHA:667
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Dysmetri...	OMIM:600224
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cerebral atrophy, Seizure, Cerebellar vermis atrophy, Dandy-Walker malformation	OMIM:616154
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy...	ORPHA:785
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Postural tremor, Impulsivity, Aggressive behavior, Akinesia, Limb ata...	OMIM:607454
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ...	OMIM:612736
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Growth delay, Hypokalemia, Hypocalcemia	OMIM:617913
Machado-Joseph Disease	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Lim...	OMIM:109150
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Failure to thrive, Hypospadias, Elevated circulating alpha-fetoprotei...	OMIM:619991
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Osteopenia, Hip contracture, Severe short stature, Hypercalcemia, Knee flexio...	OMIM:156400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seiz...	ORPHA:289266
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize...	OMIM:615637
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar...	OMIM:620028
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Postnatal growth retardation, Rickets, Abnormal serum bile acid co...	ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior	OMIM:309530
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Diffuse cerebral atrophy, Bilateral tonic-clonic sei...	ORPHA:199354
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Cere...	OMIM:617013
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Depres...	ORPHA:254881
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia, Hyperhidrosis	OMIM:614441
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria, Dysphagia	OMIM:618098
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia	OMIM:617915
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Atrophy/Degenerati...	OMIM:620200
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Dysmetria, Loss...	OMIM:616680
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Irritability,...	ORPHA:544503
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Seizure, Cerebellar hy...	OMIM:616354
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,...	OMIM:611390
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase...	ORPHA:398069
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets,...	OMIM:307800
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pick Disease Of Brain	Abnormal repetitive mannerisms, Irritability, Gliosis, Inappropriate laughter, Disinhibition, Emo...	OMIM:172700
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Choreoathetosis, Seizure, Dysphagia	OMIM:617664
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Failur...	OMIM:615285
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia, Failure to thri...	OMIM:616034
Immunodeficiency 32B	Eosinophilia, Impaired oxidative burst, Hypoalbuminemia, Abnormal circulating IgG level, Failure ...	OMIM:226990
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp...	OMIM:618120
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the brainstem, Cer...	ORPHA:445062
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm...	ORPHA:64744
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sh...	OMIM:242150
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis, Hypohidrosis, Growth delay, Hyperhidrosis	ORPHA:1764
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Osteolysis	ORPHA:2776
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Hypophosphatemia	ORPHA:2611
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Growth delay, Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Seizure, Attention deficit hyper...	ORPHA:300573
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Dystonia, Tonic seizure, Chorea, Cerebral atrop...	OMIM:612389
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obesity, Cerebral atrophy, ...	ORPHA:464282
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s...	ORPHA:324737
Hereditary Fructose Intolerance	Reactive hypoglycemia, Episodic hyperhidrosis, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo...	ORPHA:469
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Seizure, Pontoc...	OMIM:617854
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Gait ataxia, Intention tremor	OMIM:233400
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo...	ORPHA:1945
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Limb ataxia, Gait ataxia, D...	OMIM:619259
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Short stature, Hypoammonemia, Osteomalacia, Recurrent fracture...	ORPHA:534
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo...	OMIM:619055
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa...	ORPHA:98820
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Micropenis, Neonatal death, Hypocholesterolemia	OMIM:618810
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Congenital Muscular Dystrophy Due To Lmna Mutation	Joint hyperflexibility, Limitation of joint mobility, Flexion contracture, Cachexia	ORPHA:157973
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Dystonia	OMIM:618247
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Thyroid lymphangiectasia, Cryptorchidism, Joint contracture of...	OMIM:235510
Spinocerebellar Ataxia 8	Cerebellar atrophy, Progressive cerebellar ataxia, Tremor, Dysphagia	OMIM:608768
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Seizure, Brain atrophy, Dystonia, Failure to thrive	OMIM:614739
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Dystonia, Impaired distal proprioception, Impaired distal vibration sensation...	OMIM:258450
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Chorea, Nocturnal seizures, Bradykinesia,...	OMIM:619725
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Chorea, Unsteady gait, Dysmetria, Gait a...	ORPHA:397946
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity	ORPHA:391
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Seizure, Status epile...	OMIM:607426
Spinocerebellar Ataxia 6	Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia, ...	OMIM:183086
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hsd10 Disease	Ataxia, Tremor, Choreoathetosis, Frontotemporal cerebral atrophy, Seizure, Gait disturbance, Myoc...	ORPHA:391417
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Dent Disease 1	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300009
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Splenomegaly, Cere...	OMIM:614576
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi...	ORPHA:2774
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst	ORPHA:370980
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Cerebral atrophy, Seizure, Atrophy/Degeneration affecting the brainstem, Cere...	OMIM:613477
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis	ORPHA:158014
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Seizure,...	OMIM:214150
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive	OMIM:607765
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Growth delay, Hypoalbuminemia, Hypernatremia, Failure to thrive,...	OMIM:615508
Double Outlet Right Ventricle	Hypoparathyroidism, Short stature, Hypocalcemia, Failure to thrive, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Focal-onset seizure, Inability to walk, Cerebral atrophy, Seizure, Status epi...	OMIM:617802
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia...	ORPHA:2070
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia...	OMIM:277900
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosi...	OMIM:619835
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu...	ORPHA:3044
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Spinocerebellar Ataxia 26	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, Intrauterine g...	OMIM:619048
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Central adrenal insufficien...	OMIM:612079
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature, Hypophosphatemia	OMIM:146350
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Failure to thrive in in...	ORPHA:2162
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Epileptic spasm, Inability to walk, Cerebral atrophy, Myoclonic seizure, Seizure	ORPHA:544469
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Myoclonic seizure, Seizure, Dystonia, Lethargy, Cerebra...	ORPHA:254913
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hyperkalemia, Primary adrena...	ORPHA:275761
Stt3B-Cdg	Cerebellar atrophy, Cryptorchidism, Seizure, Failure to thrive, Thrombocytopenia	ORPHA:370924
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:143
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Filippi Syndrome	Cerebellar atrophy, Cryptorchidism, Seizure, Dystonia, Decreased body weight	OMIM:272440
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98754
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Seizure, Dystonia, Left ventricular hypertrophy	OMIM:614654
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Seizure, Nonprogressive cerebellar ataxia, Dystonia, Failure...	ORPHA:431361
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Hepatosplenomegaly, Seizure, Ascites, Failure to thrive, Global...	OMIM:608776
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Postnata...	ORPHA:96180
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Cryptorchidism, Seizure, Failure to thrive, Thrombocytopenia	OMIM:615597
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Acute pancreatitis, Hyperammonemia, Weight loss, Recurrent hypoglycemia,...	ORPHA:20
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Increased propo...	ORPHA:167
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Impaired glucose tolerance, Joint stiffness, Postnatal growth retardation...	OMIM:248370
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Abnormal cerebellum morphology, Dysmetria, Difficulty walking, Dysphagia, Emo...	OMIM:275900
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance	ORPHA:100988
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s...	OMIM:619428
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Exostoses of th...	ORPHA:85188
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Cerebral atrophy, Seizure, Dysmetria	OMIM:301006
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Seizure, Abdominal obesi...	OMIM:300354
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Hypocalcemia	OMIM:192430
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Sarcosinemia	Emotional lability, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor...	OMIM:611590
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Head titubation, Impai...	OMIM:615491
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Flexion contracture, Growth delay, Decreased serum zinc,...	ORPHA:89842
Jaberi-Elahi Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Cerebellar vermis at...	OMIM:617988
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr...	ORPHA:26792
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Cerebral atrophy, Euphoria, Seizure, Inappropriate behavior...	OMIM:221770
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Bile duct proliferation, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Riboflavin Transporter Deficiency	Cachexia, Hypogonadism, Diabetes insipidus	ORPHA:97229
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre...	ORPHA:263455
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98793
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Harel-Yoon Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Dystonia	OMIM:617183
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610743
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic st...	OMIM:124000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:177904
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic sei...	OMIM:617193
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Cerebral atrophy, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
Spastic Ataxia 9, Autosomal Recessive	Cerebellar vermis atrophy, Impaired distal vibration sensation, Ataxia, Dysmetria	OMIM:618438
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Spinocerebellar Ataxia 4	Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria, Distal sensory impairment	OMIM:600223
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Opisthotonus, Seizure, Gliosis, Cerebella...	OMIM:277470
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsi...	OMIM:614298
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:177901
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron, Abnormality of ...	OMIM:231100
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Abnormality of the pancreas, Abnormal bo...	ORPHA:175
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the...	OMIM:618325
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Seizure, Status epilepticus, Cerebral atrophy	OMIM:617276
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Seizure, Gait disturba...	ORPHA:412217
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:262190
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To...	OMIM:619881
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H...	OMIM:131100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ...	ORPHA:254531
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Small for gestational age, External genital hypoplasia, Hyperhidrosis, Intrauterine...	ORPHA:231147
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperamm...	OMIM:606054
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating l...	ORPHA:567548
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat...	OMIM:619913
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Seizure, Cerebral atrophy	OMIM:618008
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Seizure, Failure to thrive, Cere...	OMIM:618065
Ritscher-Schinzel Syndrome 4	Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch...	OMIM:619435
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity, Tracheomalacia	OMIM:620155
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Bilateral tonic-clonic seizure, ...	OMIM:261515
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Progressive gai...	ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Seizure, Cerebral cortical atrophy, Inability to walk	OMIM:617481
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali...	ORPHA:501
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi...	ORPHA:65682
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Hyperchole...	ORPHA:528
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hyperhidrosis, Growth delay, Hyperglycinemia, Neonatal death, Intrauterine growth r...	OMIM:245400
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency	ORPHA:101006
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Fragile X Syndrome	Macroorchidism	ORPHA:908
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow...	OMIM:608747
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Dystonia, Small for gestational age, Failure to thrive in i...	OMIM:618891
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Myoclonus, Dysmetria, Dysphagia	OMIM:619780
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis...	ORPHA:47612
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone se...	ORPHA:79473
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Pancytopenia, Ataxia, Depression, Hepatosplenomegaly, Subcortical cerebral at...	ORPHA:309288
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive beha...	ORPHA:364028
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland,...	ORPHA:186
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Werner Syndrome	Meningioma, Osteosarcoma	OMIM:277700
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dysdi...	OMIM:604391
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Abnormal mitochondrial morphology	OMIM:300438
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Glycogen Storage Disease Ic	Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia, Delayed pub...	OMIM:232240
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:99880
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature, Cryptorc...	ORPHA:163979
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis,...	OMIM:615630
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Gait imbalance, Dystonia	OMIM:619641
Intellectual Developmental Disorder, Autosomal Dominant 62	Seizure, Cerebellar vermis atrophy	OMIM:618793
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Huppke-Brendel Syndrome	Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk	OMIM:614482
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Joubert Syndrome 30	Cerebellar atrophy, Seizure, Superior cerebellar dysplasia, Dandy-Walker malformation	OMIM:617622
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Depression, Seizure, Cholest...	ORPHA:79095
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Hepatomegaly, Generalized-onset seizure, Ataxia, Inability to walk, Unsteady ...	OMIM:618443
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t...	ORPHA:2769
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Fanconi Renotubular Syndrome 1	Short stature, Osteomalacia, Rickets, Glycosuria, Hypokalemia, Hypophosphatemia	OMIM:134600
Stt3A-Cdg	Cerebellar atrophy, Seizure, Failure to thrive, Cryptorchidism	ORPHA:370921
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ...	ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir...	OMIM:618838
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Ataxia, Cerebral atrophy, Anemia, Gait disturbance, Atrophy/Degeneration affe...	OMIM:615838
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Cerebral cortical atrop...	OMIM:133190
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first...	OMIM:300243
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis	ORPHA:42642
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ...	OMIM:301072
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia...	ORPHA:358
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Peritonitis, Elevated...	ORPHA:36234
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa...	ORPHA:1934
East Syndrome	Cerebellar atrophy, Generalized-onset seizure, Salt craving, Ataxia, Inability to walk, Seizure, ...	ORPHA:199343
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemia, Hyper...	ORPHA:2394
Spinocerebellar Ataxia 25	Cerebellar atrophy, Abolished vibration sense, Ataxia, Impaired pain sensation	OMIM:608703
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Intrauterine growth retardation, Hypoalbuminemia	OMIM:617021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Growth delay, Hypoalbuminemia...	OMIM:251880
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemic seizu...	OMIM:612301
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag...	OMIM:614381
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc...	OMIM:600740
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Growt...	OMIM:608612
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Infantile spasms, Cryptorchidism, Cerebral atrophy, Seizure	OMIM:619797
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Intrauterine growth retarda...	OMIM:618253
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Abnormal pineal melatonin secretion, Increased serum bile acid concent...	ORPHA:69665
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Pan...	ORPHA:79312
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia, Gout	ORPHA:411543
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Cryptorchidism, Flexion contracture, Abnormal circulating creatine kin...	OMIM:618484
Hypomagnesemia 3, Renal	Failure to thrive, Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia	OMIM:248250
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dystonia, Progressive cer...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dystonia, Progressive cer...	ORPHA:276241
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone min...	OMIM:619377
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr...	OMIM:614702
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ...	ORPHA:276244
Japanese Encephalitis	Hyponatremia, Stiff neck, Elbow flexion contracture, Increased circulating IgM level, Focal T2 hy...	ORPHA:79139
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the...	ORPHA:33355
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Seizure, Hypoplastic spleen, Dysphagia	ORPHA:89844
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para...	OMIM:145001
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Postnatal growth retardation...	ORPHA:90321
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Failure to thrive, Hyperammonemia	ORPHA:28
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign...	OMIM:614575
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Failure to thrive, Hypoglycemia, Intrauterine growth retardation	OMIM:618958
Pseudohypoaldosteronism Type 2	Growth delay, Hyperkalemia, Short stature	ORPHA:757
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Short stature, Adrenal hypop...	ORPHA:95496
Cockayne Syndrome	Anhidrosis, Diabetes mellitus, Severe short stature, Cachexia, Postnatal growth retardation, Cryp...	ORPHA:191
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Difficulty walking, Truncal ataxia, Im...	ORPHA:98772
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmo...	ORPHA:2136
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Cryptorchidism, Partial absence of cerebellar vermis, Unsteady gait, Seizure,...	ORPHA:329224
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc...	ORPHA:268947
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Frank-Ter Haar Syndrome	Camptodactyly of finger, Osteolysis, Joint stiffness	ORPHA:137834
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	ORPHA:53583
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase...	OMIM:615830
Spinocerebellar Ataxia 47	Ataxia, Chorea, Dysmetria, Seizure, Cerebellar vermis atrophy	OMIM:617931
Al Amyloidosis	Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Hypoalbuminemia, Increase...	ORPHA:85443
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H...	ORPHA:3008
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas...	OMIM:614817
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Legionnaires Disease	Hyponatremia, Bone marrow hypocellularity, Pancreatitis	ORPHA:549
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Fail...	OMIM:618005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Failure to thrive, Hypoalbuminemia	ORPHA:367
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Cerebral atrophy, Opisthotonus, Choreoathetosi...	ORPHA:445038
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia	OMIM:300323
Biliary Atresia, Extrahepatic	Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia...	OMIM:210500
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Abnormal blood ion concentration, Arthr...	ORPHA:810
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Hyperhidros...	ORPHA:231137
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ...	OMIM:609993
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abse...	OMIM:617600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar cyst	OMIM:614678
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Proportionate short stature, Increased circulat...	ORPHA:71212
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating ferritin concen...	ORPHA:540
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Severe short stature, Cachexia, Hypoalbuminemia, Failure to thrive	OMIM:610965
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Choreoacanthocytosis	Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto...	ORPHA:2388
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Amish Lethal Microcephaly	Irritability, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Hepatomegaly	ORPHA:99742
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth d...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Seizure, Pontocerebell...	OMIM:608799
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, ...	ORPHA:1328
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Pseudobulbar paralysis, Difficulty walking...	OMIM:213700
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Diabetes insipidus, Short stature	OMIM:304800
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Hartsfield Syndrome	Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Growth delay, Micropenis,...	OMIM:615465
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ...	OMIM:620292
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short stature, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Jo...	ORPHA:85293
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia, Short stature	OMIM:125800
Nestor-Guillermo Progeria Syndrome	Short stature, Decreased serum leptin, Limited elbow movement, Joint stiffness, Flexion contractu...	OMIM:614008
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Short stature, El...	ORPHA:800
Mucolipidosis Iv	Cerebellar atrophy, Abnormal abdomen morphology, Dystonia	OMIM:252650
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Cerebral atrophy, Choreoathetosis, Statu...	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Seizure, Neurodegeneration, Gliosis, Status epilepticus, Neuronal loss in cen...	OMIM:616239
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le...	OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Athetosi...	ORPHA:404454
Trichohepatoenteric Syndrome 1	Hypospadias, Small for gestational age, Short stature, Decreased circulating antibody level, Incr...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia	OMIM:613612
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthotonus, Seizure, Status epil...	OMIM:619272
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Focal impaired awareness seizure...	OMIM:613970
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli...	ORPHA:276608
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:246900
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Failure to thrive, Hypercalcemia	OMIM:239199
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Ataxia, Small for gestational age, Bilateral tonic-clonic seizure, Aggressive...	OMIM:617799
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Elevated hepatic transaminase, Dystonia, Ataxia, Small for gestational age, N...	OMIM:615471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Macrocytic anemia, Ataxia, Corpus callosum atrophy, Atrophy/Degeneration affe...	ORPHA:98673
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Growth delay, Glyco...	ORPHA:411629
Osteosarcoma	Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Glycosuria, Hypophosphatemia	OMIM:618913
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Hypocalcemia, Intrauterine growth...	OMIM:300712
Orthostatic Hypotension 1	Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ...	OMIM:223360
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Galactose Mutarotase Deficiency	Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis	ORPHA:570422
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia...	ORPHA:572798
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Hyperkalemia, Growth delay, Increased circulating creatine kinase M...	OMIM:617595
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ...	OMIM:219080
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Glycogen Storage Disease Due To Aldolase A Deficiency	Growth delay, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Sma...	ORPHA:221008
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Glycosuria, Arthrogryposis multipl...	OMIM:613404
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Dystonia,...	OMIM:615356
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) ...	OMIM:619854
Infant Botulism	Hyponatremia, Xerostomia	ORPHA:178478
Rothmund-Thomson Syndrome Type 2	Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of th...	ORPHA:221016
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Short stature, Cachexia, Joint hyperflexibility	ORPHA:52503
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Episodic hyperhidrosis, Weight loss, Paraganglioma	ORPHA:94080
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	ORPHA:79137
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Shyness, Overweight, Inability to walk, Seizure, Cerebral cortical atrophy	OMIM:613744
Apparent Mineralocorticoid Excess	Small for gestational age, Short stature, Growth delay, Hypokalemia, Failure to thrive, Decreased...	OMIM:218030
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Diamond-Blackfan Anemia 21	Osteosarcoma	OMIM:620072
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa...	OMIM:229600
Baller-Gerold Syndrome	Lymphoma, Osteosarcoma	ORPHA:1225
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Unsteady gait, Astrocytosis, Seizure, ...	ORPHA:90324
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se...	ORPHA:140927
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration...	OMIM:610505
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Ataxia, Tremor, Cryptorchidism, Eyelid myoclonus, Seizure, Pontocerebellar atrophy, Cerebellar hy...	OMIM:618060
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut...	ORPHA:217346
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Osteoporosis, Thyroiditis, Weight loss, Polyclonal el...	ORPHA:171
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Medullary cystic kidney disease 2	Hyperuricemia, Gout	OMIM:603860
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab...	ORPHA:1359
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic...	OMIM:300912
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Generalized-onset seizure, Akinesia, Choreoathetosis, Truncal ataxia, Failure...	OMIM:618249
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Intention tremor	OMIM:612674
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, B...	OMIM:619911
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait disturbance	OMIM:612020
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Pulmonary Blastoma	Weight loss	ORPHA:64741
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Cryptorchidism, Wide anter...	OMIM:614866
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration	OMIM:609195
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus	ORPHA:726
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemia, Postnatal grow...	ORPHA:397590
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Impaired...	OMIM:164400
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Neoplasm of the lung, Arth...	ORPHA:2796
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Seizure, Hypoparathyroidism, Cerebellar atrophy	ORPHA:496756
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non...	OMIM:300558
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Short stature, Recurrent fractures, Cryptorchidism, Osteoporosis, Abnormality of the...	ORPHA:3063
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Short stature, Septate vagina, Precocious puberty, Cry...	OMIM:270400
Familial Paroxysmal Ataxia	Torticollis, Ataxia, Cerebellar vermis atrophy, Dystonia	ORPHA:97
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple...	ORPHA:53035
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, H...	ORPHA:2169
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ...	ORPHA:35687
Porphyria, Congenital Erythropoietic	Osteopenia, Short stature, Osteolysis, Elevated circulating uroporphyrin concentration, Cholelith...	OMIM:263700
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Spinocerebellar Ataxia 36	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Truncal ataxia	OMIM:614153
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Seizure, Cerebral atrophy, Dystonia	OMIM:619286
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire...	OMIM:614418
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro...	ORPHA:508
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Bilateral tonic-clonic seizure, Cerebral atrophy	ORPHA:209370
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Inability to walk, Dysmetria, Seizure, Cerebellar hypoplasia, Dystonia, Cerebellar vermis...	OMIM:618087
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
New-Onset Refractory Status Epilepticus	Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ...	ORPHA:363558
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai...	OMIM:254900
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Cere...	OMIM:620327
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu...	OMIM:256810
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr...	OMIM:606002
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elev...	ORPHA:99826
Bilateral Polymicrogyria	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ...	ORPHA:268940
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Combined Oxidative Phosphorylation Deficiency 55	Short stature, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatem...	OMIM:619743
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Failure to thrive, Cerebellar cortical atrophy	OMIM:248800
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walking, D...	ORPHA:513436
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalize...	OMIM:615398
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Impaired T cell function, Crypto...	ORPHA:567
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Focal myoclonic s...	ORPHA:481152
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Somatic sensory dysfunction, Resting...	ORPHA:909
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El...	ORPHA:355
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease...	ORPHA:231580
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul...	ORPHA:90363
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Nephrogenic Diabetes Insipidus	Short stature, Nephrogenic diabetes insipidus, Growth delay, Hypernatremia, Failure to thrive	ORPHA:223
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperhidrosis, Hyperphosphatemia, De...	ORPHA:340
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:615802
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Depression, Pseudobulbar paralys...	OMIM:169500
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c...	ORPHA:97282
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Mevalonic Aciduria	Cerebellar atrophy, Normocytic hypoplastic anemia, Elevated hepatic transaminase, Agenesis of cer...	OMIM:610377
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Hyperbilirubinemia, Hyperglycemia, Intrauterine growth ret...	OMIM:615710
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se...	ORPHA:371364
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c...	OMIM:618186
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr...	OMIM:619662
Exercise-Induced Malignant Hyperthermia	Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ...	ORPHA:466650
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:160
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Torticollis, Ataxia, Infantile spasms	OMIM:618547
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Myelod...	ORPHA:2909
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm	OMIM:240500
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Cerebral atrophy, Seiz...	OMIM:618922
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysphagia, Cerebellar cyst	OMIM:606612
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Flexion contracture, Hypoalbuminemia, Bone marrow hypocellularity	OMIM:617303
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Supernumerary nipple, Impaired social interactions, Aggressive be...	OMIM:616083
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Micropenis, Hypothyroidism, Joint laxity, Hypospadia...	OMIM:243800
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s...	ORPHA:369929
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dy...	OMIM:277460
Cog5-Cdg	Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Crypto...	ORPHA:263487
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Glycogen Storage Disease Xii	Short stature, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Delayed pu...	OMIM:611881
Lathosterolosis	Bilobate gallbladder, Osteoporosis, Growth delay, Abnormal circulating cholesterol concentration,...	OMIM:607330
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Exaggerated startle ...	OMIM:617281
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c...	OMIM:616878
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Saccharopinuria	Short stature, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated...	ORPHA:3124
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan...	OMIM:246200
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy	OMIM:618506
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Scholte Syndrome	Cerebellar atrophy, Decreased testicular size	OMIM:300977
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari...	OMIM:614742
Bile Acid Synthesis Defect, Congenital, 2	Failure to thrive, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis, Pancreatitis	ORPHA:544482
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Cerebral atrophy, Limb dystonia	OMIM:620269
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ...	OMIM:614162
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Short stature, Hypophosphatemia	OMIM:308990
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob...	OMIM:219090
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Cryptorchidism, Gait ataxia, Seizure, Spastic gait	ORPHA:496790
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ...	OMIM:619381
Tetrasomy 12P	Joint hyperflexibility, Short stature, Cachexia	ORPHA:884
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, Seizure, Loss of ambulation	OMIM:620089
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Bile duct proliferation, Hyperbilirubinemia, Steatorrhea	OMIM:613812
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Hyperprolinemia, Focal T2 hyperintense thalamic lesion, Hyperalaninemia...	OMIM:619046
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, Growth delay, Elevated circu...	ORPHA:66634
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hepat...	ORPHA:466934
Peho Syndrome	Cerebellar atrophy, Seizure, Neuronal loss in central nervous system, Myoclonus	OMIM:260565
Galloway-Mowat Syndrome 3	Short stature, Hypoalbuminemia, Camptodactyly, Intrauterine growth retardation, Failure to thrive	OMIM:617729
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Elevated hepatic transaminase, Seizure, Abnormality of the liver, Failure to ...	OMIM:610131
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Cystinuria	Hyperuricemia	ORPHA:214
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Cryptorchidism, Obesity, Polycystic ovaries, Decreased testicular size	ORPHA:3085
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Neonatal hyperbilirubinemia, Short stature	ORPHA:293939
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Cryptorchidism, Growth delay, Recurrent hypoglycemia, D...	OMIM:616817
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy	ORPHA:98773
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse...	ORPHA:478029
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,...	OMIM:617933
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:174000
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha...	OMIM:619858
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Elevated hemoglobin A1c, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrop...	OMIM:616192
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Arthrog...	OMIM:208085
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Ataxia, Cryptorchidism, Gait ataxia, Seizure, Decreased body weight, Failure ...	OMIM:617164
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c...	ORPHA:97283
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Myoclonic seizure, Dysphagia, Cerebral ...	OMIM:619576
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Seizure, Bruxi...	OMIM:617804
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysphagia, Febrile seizure ...	ORPHA:496641
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Conjugated hyperbilirubinemia,...	OMIM:620305
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f...	ORPHA:3206
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Head titubation, Dysmetria, Seizure...	OMIM:619708
Rothmund-Thomson Syndrome, Type 2	Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma	OMIM:268400
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia, Hypocalcemia	ORPHA:2306
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Seizure, Decreased body weight	OMIM:614833
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Depression, Bradykinesia, Gait disturbance, Compulsi...	ORPHA:93256
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Xanthinuria, Type Ii	Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia	OMIM:603592
Ppoma	Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor...	ORPHA:97278
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Diabetes mellitus, Small for gestational age, Hypoglycemia, Proportionate short sta...	ORPHA:391408
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Intrauterine growth r...	OMIM:266200
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm...	OMIM:270550
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail...	ORPHA:2089
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Fg Syndrome Type 1	Limited elbow extension and supination, Hypospadias, Short stature, Craniosynostosis, Progressive...	ORPHA:93932
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy	OMIM:108500
Satoyoshi Syndrome	Short stature, Osteolytic defects of the phalanges of the hand, Hypoplasia of the uterus, Mildly ...	OMIM:600705
Gracile Syndrome	Cholestasis	OMIM:603358
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Decreased circulating antibody level, Growth delay, Hypoalbuminemia, Failure to...	ORPHA:79396
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile...	ORPHA:171680
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti...	ORPHA:231632
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:248500
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Pancreatitis, Increased serum bile acid concentration	OMIM:243300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infan...	ORPHA:480864
Smith-Kingsmore Syndrome	Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Wide anterior fontanel, Decr...	OMIM:616638
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Thin bony cortex, Joint stiffness	OMIM:230600
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Hyperammonemia, Recurrent hypoglycemia, Impai...	OMIM:212140
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Hereditary Spherocytosis	Growth delay, Cholelithiasis, Gout, Hyperbilirubinemia	ORPHA:822
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment	OMIM:615217
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega...	ORPHA:309155
Dermatoosteolysis, Kirghizian Type	Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Congenital Bile Acid Synthesis Defect Type 3	Bile duct proliferation, Hyperbilirubinemia	ORPHA:79302
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Aggressive behavior, Cryptorchidism, Cerebral atrophy, Seizure, Attention def...	OMIM:618659
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Chylomicron Retention Disease	Hypertriglyceridemia, Growth delay, Steatorrhea, Failure to thrive, Hypocholesterolemia	ORPHA:71
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In...	ORPHA:79474
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Episodic Ataxia Type 1	Choreoathetosis, Cerebellar atrophy, Tip-toe gait	ORPHA:37612
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Bilateral tonic-clonic seizure, Chore...	ORPHA:369840
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Atrophy of the spinal cord, Gait ataxia	ORPHA:139480
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Micropenis, Failure to thrive	OMIM:220120
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Molybdenum Cofactor Deficiency, Complementation Group C	Neonatal death, Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Juvenile Polyposis Of Infancy	Cachexia, Short stature, Hypoalbuminemia, Freckled genitalia	ORPHA:79076
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r...	OMIM:619877
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Osteoporosis, Hypoglycemia	OMIM:617190
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Impaired T cell function, Abnormalit...	OMIM:613179
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Bilateral tonic-clonic seizure	OMIM:611556
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Thrombocytopenia, Inability to walk, Generalize...	ORPHA:457351
Satoyoshi Syndrome	Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,...	ORPHA:3130
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ...	ORPHA:543470
Slc35A2-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Failure to thrive in infancy, Infantile spasms...	ORPHA:356961
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Int...	ORPHA:247234
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Seizure, Failure to thrive, Cerebral atrophy	OMIM:601110
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax...	OMIM:617101
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Depression, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysphag...	OMIM:168601
Focal Myositis	Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Leigh Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Infantile spasms, Chorea, Hepatic failure, Neutropenia, Dys...	ORPHA:506
Grfoma	Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl...	ORPHA:97261
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Short stature, Neonatal epiphyseal stippling, Flexion contracture,...	ORPHA:35173
Galloway-Mowat Syndrome 1	Small for gestational age, Short stature, Hypoalbuminemia, Camptodactyly, Intrauterine growth ret...	OMIM:251300
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Elevated hepatic transaminase, Resting tremor, Ataxia, Tremor, Depression, Ga...	ORPHA:254892
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Ataxia	OMIM:618598
Dubowitz Syndrome	Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypocholesterolemia, In...	OMIM:223370
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Short stature, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Postural tremor	OMIM:206700
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Familial Or Sporadic Hemiplegic Migraine	Cerebellar atrophy, Impaired temperature sensation, Dissociated sensory loss, Focal motor seizure...	ORPHA:569
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ...	OMIM:251000
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Cholelithiasis	OMIM:605479
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Flexion contracture, Xerostomia, Osteolysis, Arthritis	ORPHA:220393
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar hypoplasia, Difficulty ...	ORPHA:280210
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce...	OMIM:613038
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Short stature, Recurrent fractures, Increased circulating ferritin c...	OMIM:222700
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Tenorio Syndrome	Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity	OMIM:616260
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Digeorge Syndrome	Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Impaired T ...	OMIM:188400
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Joint hyperflexibility, Th...	ORPHA:109
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Seizure, Brain atrophy, Dystonia	OMIM:616875
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Hyperammonemia, Growth delay, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Graft Versus Host Disease	Dupuytren contracture, Limited elbow movement, Limited shoulder movement, Arthritis, Hyperbilirub...	ORPHA:39812
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Cerebral atrophy, Depression, Head tremor, Atrophy/De...	ORPHA:314404
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Myoclonus, Cerebral atrophy	OMIM:619609
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Bruxism	OMIM:615716
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In...	ORPHA:101028
Robinow Syndrome	Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, Small for ge...	ORPHA:97360
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia	OMIM:214950
Bardet-Biedl Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:618856
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Erythrokeratodermia Variabilis	Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss	ORPHA:317
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Infantile spasms, Aggressive behavior, Chorea, Cerebr...	OMIM:618321
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intraut...	OMIM:619321
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:95494
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Dysmetria, Gait disturbance, Arm dyston...	ORPHA:88644
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Biotinidase Deficiency	Hepatomegaly, Diffuse cerebral atrophy, Ataxia, Splenomegaly, Seizure, Lethargy, Diffuse cerebell...	OMIM:253260
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Seizure	OMIM:616212
Mulibrey Nanism	Short stature, Growth delay, Intrauterine growth retardation, Nephroblastoma, Thickened cortex of...	OMIM:253250
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased testicular size, Inability to walk, Cryptorchidism, Seizure, Status...	OMIM:615663
Dk1-Cdg	Elevated hepatic transaminase, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seiz...	ORPHA:91131
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro...	ORPHA:276621
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Tuberculosis	Weight loss	ORPHA:3389
Hutchinson-Gilford Progeria Syndrome	Growth delay, Osteolysis, Generalized osteoporosis	OMIM:176670
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe...	OMIM:616973
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis, Malformation of the hepatic du...	OMIM:218330
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Pain insensitivity, Aggressive behavior, Tonic seizure, Cryptorchidi...	OMIM:300534
Autoimmune Hepatitis	Thyroiditis, Arthritis, Increased circulating IgG level, Increased circulating antibody level, In...	ORPHA:2137
Mosaic Variegated Aneuploidy Syndrome	Short stature, Vaginal neoplasm, Osteolysis, Growth delay, Ambiguous genitalia, Intrauterine grow...	ORPHA:1052
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia	OMIM:235700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism...	OMIM:620224
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp...	OMIM:255120
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Gliosis, F...	ORPHA:683
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia	OMIM:600649
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Acute Intermittent Porphyria	Hyponatremia, Hyperhidrosis	ORPHA:79276
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Müllerian Aplasia And Hyperandrogenism	Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron...	ORPHA:247768
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin...	ORPHA:370348
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness s...	OMIM:301058
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness	ORPHA:702
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Kaufman Oculocerebrofacial Syndrome	Short stature, Hypoplastic labia majora, Hypocholesterolemia, Failure to thrive, Clitoral hypertr...	OMIM:244450
Silver-Russell Syndrome 1	Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, Fa...	OMIM:180860
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Polycystic ovaries, Cerebral atrophy, Elevated hepatic transaminase	OMIM:268020
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Chiari type...	OMIM:618316
Apparent Mineralocorticoid Excess	Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard...	ORPHA:320
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Failure to thrive, Short stature	OMIM:601847
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Rhizomelia, Short stature, Generalized joint laxity, Decreased calvaria...	OMIM:613848
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c...	ORPHA:97280
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Hajdu-Cheney Syndrome	Osteopenia, Failure to thrive, Hypospadias, Short stature, Recurrent fractures, Osteoporosis, Ost...	ORPHA:955
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta...	OMIM:614837
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Status epilepticus, Cerebellar vermis atrophy	OMIM:615760
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated ci...	ORPHA:26791
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Axonal degeneration, Seizure, Dystonia, Global brain atrophy	OMIM:616811
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone marr...	ORPHA:86839
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Weight loss, Joint hyperflexibility, Severe short-limb dwarfism, Failur...	ORPHA:1842
Senior-Boichis Syndrome	Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Aggressive behavior...	ORPHA:84081
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Atte...	ORPHA:98784
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Splenomegaly, Hepatomegaly	OMIM:618541
Metachromatic Leukodystrophy	Dystonia, Ataxia, Tremor, Abnormal gallbladder morphology, Hemobilia, Seizure, Tip-toe gait, Gait...	ORPHA:512
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Ataxia, Pancreatic fibrosis, Dysmetria, Seizure, Hepatic fibros...	OMIM:616263
Hereditary Xanthinuria	Rheumatoid arthritis, Hypouricemia, Gout, Hyperxanthinemia	ORPHA:3467
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:50251
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Myoclonus,...	OMIM:618426
Coccidioidomycosis	Abnormal sperm morphology, Osteomyelitis, Eosinophilia, Abnormality of the endocrine system, Oste...	ORPHA:228123
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Ankylosis, Palmoplantar hyperhidrosis, Osteolysis	ORPHA:659
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Diamond-Blackfan Anemia	Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac...	ORPHA:124
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Diffuse cere...	ORPHA:247815
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Growth delay, Rectocele, Failure to thrive, Hypoproteinemia	ORPHA:2929
Congenital Erythropoietic Porphyria	Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Unconjugated ...	ORPHA:79277
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Failure to thrive	OMIM:619484
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Splenomegaly,...	OMIM:252940
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Amed Syndrome, Digenic	Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Failure t...	OMIM:619151
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital...	ORPHA:96181
Isolated Growth Hormone Deficiency, Type Iv	Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ...	OMIM:618157
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:618160
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Microsporidiosis	Brain abscess, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Pe...	ORPHA:2552
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, S...	ORPHA:3240
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Pearson Marrow-Pancreas Syndrome	Pancreatic fibrosis, Small for gestational age, Hyperbilirubinemia, Steatorrhea, Type I diabetes ...	OMIM:557000
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Growth delay, Hypokalemia, Short stature, Hyperamylasemia	OMIM:604278
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs...	ORPHA:79351
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Ataxia, Dysmetria, Cerebral atrop...	ORPHA:94147
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia, Hyperhidrosis	OMIM:171420
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm...	OMIM:212138
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Cryptorchidism, Head-banging, Seizure, Attention deficit hyperactivity disord...	OMIM:619103
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive	OMIM:615453
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Opisthotonus, Irritab...	OMIM:252160
Slc39A8-Cdg	Cerebellar atrophy, Failure to thrive in infancy, Inability to walk, Seizure, Abnormality of the ...	ORPHA:468699
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemi...	OMIM:276700
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Rickets, Limitation...	ORPHA:89936
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia	OMIM:201910
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia,...	OMIM:617591
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Incontinentia Pigmenti	Short stature, Eosinophilia, Supernumerary nipple, Camptodactyly of finger, Osteolysis, Hyperhidr...	ORPHA:464
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Brain atrophy, Myoclonic seizure	OMIM:620070
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci...	ORPHA:79318
Congenital Insensitivity To Pain With Severe Intellectual Disability	Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s...	ORPHA:453510
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermo...	OMIM:619418
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro...	ORPHA:29072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Increased circulating IgM level, Hypoalbuminemia, Bone marr...	ORPHA:505248
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Seizure, Dysdiadochokinesis, Polydipsia, Intention tremor	OMIM:612780
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei...	OMIM:169400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias	OMIM:618874
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater...	OMIM:614231
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Axonal degeneration, Scissor ga...	OMIM:278800
Trisomy 18	Short stature, Camptodactyly of finger, Cachexia, Cryptorchidism, Growth delay, Intrauterine grow...	ORPHA:3380
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-onset seizure, Generali...	ORPHA:395
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Ataxia, Depression	OMIM:604121
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia	ORPHA:391428
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Corpus callosum atrophy, Dysmetria, Seizure, Dysdiadoch...	ORPHA:171629
Monosomy 13Q34	Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Growth delay	ORPHA:96168
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ...	ORPHA:2457
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Kaposiform Lymphangiomatosis	Pancreatic cysts, Fractures of the long bones, Metrorrhagia, Osteolysis	ORPHA:464329
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Cerebral atrophy	OMIM:272200
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Bone cyst, Flexion contracture, Osteoly...	ORPHA:3042
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temp...	OMIM:268800
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid...	ORPHA:3157
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Seizure, Epileptic spasm, Dysphagia	ORPHA:485421
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, D...	OMIM:210710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Tonic seizure, Irritability, Seizure, Dysphagia...	OMIM:618367
Raine Syndrome	Increased bone mineral density, Short stature, Subperiosteal bone formation, Hypophosphatemia, Ne...	OMIM:259775
Oculodentodigital Dysplasia	Hypoglycemia, Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Abnormal cortical bone...	ORPHA:2710
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive...	ORPHA:2131
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate...	OMIM:248600
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Myelodysplasia, Osteosarcoma	OMIM:105650
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Central hypothyroidism, Weight loss, Gro...	ORPHA:95427
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hyperextensibility of the finger joints, Hip contracture, Decreased response to gro...	OMIM:619503
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Seizur...	ORPHA:46059
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Abnormal cerebellum morphology,...	ORPHA:77293
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Severe short stature, Cranial hyperostosis, Limitation of joint m...	ORPHA:2658
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight lo...	ORPHA:729
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hy...	ORPHA:653
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Seckel Syndrome	Short stature, Cachexia, Craniosynostosis, Joint hyperflexibility, Intrauterine growth retardation	ORPHA:808
Mirizzi Syndrome	Pancreatitis, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledo...	ORPHA:521219
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Holocarboxylase Synthetase Deficiency	Growth delay, Thrombocytopenia, Hyperammonemia, Weight loss	ORPHA:79242
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl...	OMIM:614207
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, T...	OMIM:620365
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating creatine kinase...	OMIM:614921
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Short stature, Hypoglycemia, Delayed epiphyseal ossification, Flexion contracture, Gr...	OMIM:616007
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Dysphagia	ORPHA:352447
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145981
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Obesity, Self-inj...	ORPHA:468678
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired pain sensation, Impaired temperature sensation, Atrophy of t...	ORPHA:247245
Mixed Connective Tissue Disease	Arthritis, Xerostomia, Osteolysis, Joint stiffness	ORPHA:809
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cardiomegaly, Inab...	OMIM:620066
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Bilateral tonic-clonic seizure, Cardiomegaly, Hepatocellular necrosis, Periportal f...	OMIM:201475
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ...	OMIM:615538
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Cardiomegaly, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Le...	OMIM:620306
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Cerebral atrophy, Ataxia, Brain atrophy	OMIM:619260
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis	ORPHA:95159
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b...	OMIM:309583
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Dysphagia	OMIM:615919
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:2072
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis	OMIM:145980
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Short stature, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increase...	OMIM:619534
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Dystonia, Bilateral tonic-clonic seizure, Splenomegaly, Cerebral atrophy, Neutropen...	OMIM:617050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Arthriti...	OMIM:304790
Spondyloocular Syndrome	Osteopenia, Short stature, Thin bony cortex, Decreased body weight	OMIM:605822
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro...	OMIM:617243
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A...	ORPHA:85450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Acth Deficiency, Isolated	Seizure, Jaundice, Adrenocorticotropic hormone deficiency, Cholestasis	OMIM:201400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i...	ORPHA:2965
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Growth delay, Hyperkalemia, Short stature	OMIM:608885
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Biliary hyperplasia, Pancreatic cysts, Growth delay, Increased serum bile acid conc...	ORPHA:731
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly,...	OMIM:615846
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic fibrosis, Short stature, Conjugated hyperbilirubinemia, Pancreatic cysts, Early ossifi...	OMIM:208500
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Neonatal death, Increased circulating very long-chain fatty acid c...	OMIM:614887
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest...	OMIM:260400
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Impulsivity, Akinesia, Depression, Weight loss, Bradykinesia, Gliosis, ...	ORPHA:411602
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Lymphadenopathy, Weight loss	ORPHA:26790
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati...	ORPHA:99949
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc...	OMIM:615577
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipidemia, Ab...	ORPHA:567983
Weill-Marchesani Syndrome 1	Proportionate short stature, Short stature, Thin bony cortex, Joint stiffness	OMIM:277600
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased...	OMIM:173100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Small for gestational a...	OMIM:620024
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy	OMIM:615084
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli...	ORPHA:85408
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Dystonia, Emotional l...	ORPHA:309256
Trisomy 20P	Macroorchidism, Cryptorchidism, Hypospadias	ORPHA:261318
Fryns-Smeets-Thiry Syndrome	Joint hyperflexibility, Short stature, Cachexia	ORPHA:2058
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Weight loss, Lymphadenopathy, ...	ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Wide anterior fontanel, Glycosuria, Neonatal death, Elevated circulating glutaric a...	OMIM:231680
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Decreased fertility, Secondary amen...	ORPHA:902
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv...	ORPHA:95433
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Brain atrophy, Opisthotonus	OMIM:271900
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Short stature, Osteoporosis, Growth delay, Bile duc...	OMIM:301068
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Splenomegaly, Hepatic f...	OMIM:252010
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Seizure, Cerebral atrophy	OMIM:616266
Ogden Syndrome	Short stature, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Wide anterior fon...	OMIM:300855
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Bilateral tonic-clonic seizure	OMIM:540000
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:231720
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Growth delay, ...	ORPHA:77261
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Cryptorchid...	OMIM:619512
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp...	OMIM:259730
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased...	ORPHA:159
Degcags Syndrome	Osteopenia, Hypospadias, Small for gestational age, Craniosynostosis, Tracheomalacia, Cryptorchid...	OMIM:619488
Copper Deficiency, Familial Benign	Failure to thrive, Decreased circulating copper concentration, Anemia	OMIM:121270
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Melas	Hypoparathyroidism, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Seiz...	ORPHA:550
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Nephronophthisis 16	Enlarged kidney, Periportal fibrosis, Cholestasis	OMIM:615382
Metachromatic Leukodystrophy, Adult Form	Dystonia, Chorea, Depression, Seizure, Progressive gait ataxia, Cholecystitis, Difficulty walking...	ORPHA:309271
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp...	OMIM:615849
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201710
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Atrophy of...	ORPHA:466768
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Seizure, Cholestatic liver disease, Failure to thrive, Hepatomegaly	ORPHA:5
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia	ORPHA:300605
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Subcortical cerebral ...	ORPHA:440713
Galloway-Mowat Syndrome 9	Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy	OMIM:619603
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Fumarase Deficiency	Failure to thrive, Mitochondrial swelling, Hyperbilirubinemia	OMIM:606812
Pituitary Hormone Deficiency, Combined, 3	Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:221750
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Seizure, Agitation, Disinhibition, Myoclonus, Abnormal social behavior, Cerebral cortical...	ORPHA:1020
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, Pituitary hypothyro...	OMIM:619983
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge...	OMIM:610644
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D...	ORPHA:495875
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Oral-pharyngeal dysphagia, Tr...	OMIM:300966
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Focal impaired awareness seizure	OMIM:616683
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Huntington Disease	Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Abnormal ...	ORPHA:399
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Liddle Syndrome 1	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Rh Deficiency Syndrome	Intrauterine growth retardation, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism	OMIM:616351
Cryptococcosis	Osteomyelitis, Prostatitis, Osteolysis	ORPHA:1546
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Hypokalemia...	ORPHA:231625
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia	OMIM:248360
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Hypere...	OMIM:617052
Huntington Disease-Like 2	Weight loss	ORPHA:98934
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Cryptorchidism, Seizure, Cerebellar hypoplasia, Attention deficit hyperactivity diso...	ORPHA:96092
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hepatic...	ORPHA:255210
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia	OMIM:231670
Craniosynostosis 6	Cerebellar atrophy, Dandy-Walker malformation	OMIM:616602
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr...	ORPHA:96182
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Co...	ORPHA:309282
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Cerebellar hypoplas...	ORPHA:314647
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Hypercalcemia, Portal hypertension, Eosinophilia, Thro...	ORPHA:797
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Abnormal ductus choledochus morphology, Increased circulating Ig...	ORPHA:562639
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Seizure, Attention deficit hyper...	ORPHA:3166
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure, Head-banging	OMIM:619356
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb...	OMIM:619124
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia	OMIM:617763
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure	OMIM:600092
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e...	ORPHA:35706
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen...	ORPHA:520
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen...	OMIM:614756
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Cranioectodermal Dysplasia 2	Joint laxity, Rhizomelia, Short stature, Craniosynostosis, Bile duct proliferation, Hyperbilirubi...	OMIM:613610
Rett Syndrome	Short stature, Cachexia	OMIM:312750
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,...	OMIM:620186
X-Linked Intellectual Disability, Nascimento Type	Cryptorchidism, Micropenis, Hypospadias, Neonatal hyperbilirubinemia	ORPHA:163956
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Peho Syndrome	Cerebellar atrophy, Infantile spasms, Seizure, Atrophy/Degeneration affecting the brainstem, Cere...	ORPHA:2836
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Large for gestational age, Cryptorchidism, Neonatal hypoglycemia, Decreased circulat...	ORPHA:457485
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failu...	ORPHA:2609
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure	OMIM:600721
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T...	OMIM:300607
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Hypospadias, Anterior pituitary hypoplasia...	OMIM:151050
Metachromatic Leukodystrophy, Juvenile Form	Seizure, Progressive gait ataxia, Cholecystitis, Dystonia, Emotional lability, Abnormal social be...	ORPHA:309263
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Senior-Loken Syndrome 9	Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Pulmonary Alveolar Microlithiasis	Abnormal circulating calcium concentration, Decreased fertility, Weight loss, Gonadal calcificati...	ORPHA:60025
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic ...	ORPHA:405
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Thrombocy...	ORPHA:647
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Ataxia, Increased mean platelet volume, Cryptorchidism, Seizure, Cerebellar h...	OMIM:616737
Liddle Syndrome	Hypokalemia	ORPHA:526
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non...	ORPHA:513456
Vascular Ehlers-Danlos Syndrome	Hypospadias, Short stature, Cryptorchidism, Osteoarthritis, Cystocele, Osteolysis, Joint hyperfle...	ORPHA:286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Abnormal mitochondrial shape, Hypospadias, Hypoglycemia, Flexion contract...	ORPHA:17
Familial Atrial Myxoma	Jaundice, Ascites, Cholestasis, Cardiomegaly	ORPHA:615
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Hypouricemia	OMIM:252150
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Small for gestational age, Cryptorchidism, Seizure, Failure to thrive	OMIM:193700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Joint laxity, Failure to thrive, Osteomyelitis, Hypospadias, Overweight, Obesity, ...	OMIM:619475
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai...	ORPHA:488613
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Large for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Seizure...	OMIM:614080
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Seizure, Hepatic fibrosis, Hepati...	ORPHA:541423
3P25.3 Microdeletion Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici...	ORPHA:435638
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Thrombocytopenia,...	OMIM:611209
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, Prolonged neonatal jaundice, HbH hemoglobin, Bilateral tonic-clonic sei...	ORPHA:423479
Deeah Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:619004
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Cerebellar hy...	OMIM:257300
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Beckwith-Wiedemann Syndrome	Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, La...	ORPHA:116
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Osteogenesis Imperfecta	Osteopenia, Short stature, Rhizomelia, Recurrent fractures, Small for gestational age, Fractures ...	ORPHA:666
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Seizure, Dystonia, Impaired oropharyngeal swallow response, Failure...	ORPHA:521426
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Broad-based gait, C...	OMIM:617330
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Postnatal growth retardation, Short stature, Decreased thalamic vo...	ORPHA:168577
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Nephronophthisis 18	Portal fibrosis, Cholestasis	OMIM:615862
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Cerebellar hypoplasia, Im...	ORPHA:457359
Opsismodysplasia	Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia	OMIM:258480
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Seizure, Cerebellar hypoplasia	OMIM:618590
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion...	OMIM:616005
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio...	ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Failure to thrive, Cerebellar atrophy, Cerebral atrophy	OMIM:616430
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ...	ORPHA:309031
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Neonatal hypoglycemia, Congenital foot contractures, Intrauterine growth retardation	ORPHA:565624
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Br...	OMIM:620330
Pheochromocytoma	Pheochromocytoma, Hypercalcemia, Hyperhidrosis	OMIM:171300
Rheumatoid Arthritis	Rheumatoid arthritis, Joint stiffness, Elevated circulating C-reactive protein concentration, Wei...	OMIM:180300
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Caroli Syndrome	Conjugated hyperbilirubinemia, Abnormal ductus choledochus morphology, Pancreatitis, Hyperbilirub...	ORPHA:480520
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Weight loss, Hepatosplenom...	ORPHA:354
Multiple Osteochondromas	Osteochondroma, Chondrosarcoma, Short stature, Limitation of joint mobility, Arthritis, Rib exost...	ORPHA:321
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Shyness, Cerebral atrophy, Seizure, Attention deficit hyperactiv...	OMIM:301030
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss, ...	ORPHA:1332
Eosinophilic Fasciitis	Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypokalemia	OMIM:611489
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ...	OMIM:613457
Yellow Fever	Acute pancreatitis, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, E...	ORPHA:99829
Leopard Syndrome 1	Hypospadias, Short stature, Limited elbow movement, Cryptorchidism, Micropenis, Hypoplasia of the...	OMIM:151100
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Septooptic Dysplasia	Short stature, Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterio...	OMIM:182230
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Craniosynostosis, Enlarged polycystic ovaries, Neoplasm ...	ORPHA:744
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Precocious puberty, Osteoporosis, Osteolysis, Glomus jugular tumor, El...	ORPHA:97685
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Takayasu Arteritis	Arthritis, Anemia, Weight loss	ORPHA:3287
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Papillon-Lefèvre Syndrome	Osteolysis	ORPHA:678
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Lowe Oculocerebrorenal Syndrome	Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-...	OMIM:309000
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Menkes Disease	Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperfle...	ORPHA:565
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy, Aggressive beh...	ORPHA:268261
Eisenmenger Syndrome	Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive...	ORPHA:97214
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level	OMIM:615474
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251100
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro...	OMIM:210900
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Cerebral cortical atrophy, ...	OMIM:614222
Kinsship Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619297
Weaver Syndrome	Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, Hydrocel...	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se...	OMIM:617798
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Congenital Tufting Enteropathy	Irritability, Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Weight loss	ORPHA:654
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Cerebral atrophy, Dystonia	OMIM:618397
Glass Syndrome	Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio...	OMIM:612313
Chronic Hiccup	Weight loss	ORPHA:396
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Weight loss	ORPHA:2221
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C...	ORPHA:100086
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Growth delay, Camptodactyly, Cortical irregularity	OMIM:249420
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hyperthyroidism, H...	ORPHA:3455
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Joint stiffness, Elbow flexion contracture, Flexion c...	OMIM:608328
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepat...	ORPHA:781
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia	ORPHA:476126
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hyperammonemia, Elevated circulating pal...	ORPHA:79282
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor...	OMIM:127550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia,...	ORPHA:436159
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Brai...	ORPHA:447997
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia	ORPHA:1827
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o...	ORPHA:198
Zygomycosis	Pancreatitis, Diabetes mellitus, Osteolysis	ORPHA:73263
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Anemia, Truncal obesity, Dysdiadochokinesis,...	OMIM:616541
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	OMIM:619476
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Alg9-Cdg	Rhizomelia, Wide anterior fontanel, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nippl...	ORPHA:79328
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Cerebral atrophy, Seizure, Recurrent pancreatitis, Cerebellar hypopla...	OMIM:618268
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Diffuse cerebellar atrophy, Dystonic gait, Cerebral atrophy	ORPHA:480898
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Spina bifida...	ORPHA:904
Sotos Syndrome	Joint laxity, Cryptorchidism, Increased body weight, Glucose intolerance, Neonatal hypoglycemia	OMIM:117550
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Short stature, Thin bony cortex	OMIM:619727
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,...	OMIM:612541
Gitelman Syndrome	Hypomagnesemia, Growth delay, Hypokalemia, Increased circulating renin level, Delayed puberty, Fa...	OMIM:263800
Isaacs Syndrome	Weight loss	ORPHA:84142
Aa Amyloidosis	Hepatomegaly, Enlarged kidney, Cholestasis	ORPHA:85445
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Severe intrauterine growth...	OMIM:609069
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia, Elbow contracture	OMIM:620275
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptorchidism, Cere...	ORPHA:468631
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Neonatal death, Intra...	OMIM:601186
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy, Weight loss	ORPHA:142
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Cachexia, Limited elbow movement, Osteoporosis, Slender build, ...	ORPHA:558
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Resting tremor, Bilateral tonic-clonic seizure, Leukocytosis, Fulm...	ORPHA:319213
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Pancytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:620133
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hyperactive...	OMIM:607364
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Broad-based gait, Bilateral tonic-clonic seizure, Elevated circulating aspartate am...	OMIM:280000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Polymyositis	Arthritis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
Alagille Syndrome	Hepatomegaly, Cryptorchidism, Cholestasis, Reduced number of intrahepatic bile ducts, Failure to ...	ORPHA:52
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Shor...	OMIM:206900
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Large for gestational age, Gait ataxia, Seizure, Cerebral cortical atrophy	OMIM:617011
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Leukocytosis, Cholestasis, Lethargy, Failure to thrive	OMIM:620233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Anemia, Hyperglycinemi...	OMIM:620358
Cockayne Syndrome A	Cerebellar atrophy, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Cerebral atrophy,...	OMIM:216400
Enteric Anendocrinosis	Cholestatic liver disease, Portal hypertension	ORPHA:83620
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal...	ORPHA:324625
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Granulovacuolar degeneration, Bradykinesia, Irritabili...	OMIM:609454
Postinfectious Vasculitis	Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration...	ORPHA:48435
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Trichothiodystrophy	Generalized-onset seizure, Cryptorchidism, Increased mean corpuscular hemoglobin concentration, G...	ORPHA:33364
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Contracture of the proximal interphalangeal joint of the 4th toe, Wide anterior fontanel, Hypogly...	ORPHA:457279
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphadenopathy, W...	ORPHA:139402
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Flexion contracture, Disproportionate short-limb short stature, Small pituitary glan...	OMIM:619479
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis	OMIM:177000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Alagille Syndrome 2	Cholestatic liver disease, Cholestasis	OMIM:610205
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Failure to thrive, Anemia	OMIM:616457
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Supernumerary nipple, Seizure, Gait disturbance, Myoclonus	ORPHA:247262
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Knee flexion contracture, Weight loss, Intraut...	ORPHA:3208
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Short s...	OMIM:194050
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia	OMIM:617671
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia	OMIM:610651
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia, Steatorrhea	OMIM:613471
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia	ORPHA:75565
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Joint stiffness, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis,...	OMIM:618820
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small for gestational ag...	ORPHA:464306
Kabuki Syndrome 2	Joint laxity, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine gr...	OMIM:300867
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	ORPHA:67045
Goodpasture Syndrome	Weight loss, Anemia, Increased blood urea nitrogen	OMIM:233450
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Elevated hemoglobin A1c, Bilateral tonic-clonic seizure	OMIM:619278
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, He...	OMIM:266920
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce...	ORPHA:18
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy, Weight loss	ORPHA:411703
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic m...	OMIM:301040
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Limitation of joint mobility, Oste...	ORPHA:285
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Hemangioma, Macroorchidism	OMIM:619950
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Chime Syndrome	Osteolysis	ORPHA:3474
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Hypokalemia, Hyperthyroidism, Short stature	OMIM:170390
Stickler Syndrome	Short stature, Cachexia, Osteoarthritis, Reduced bone mineral density, Joint hyperflexibility, Sl...	ORPHA:828
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Tremor, Partial absence of cerebellar vermis, Hydrocele testis, Athetosis, Se...	ORPHA:280633
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Unconjugated hyperbilirubinemia	OMIM:618278
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Bilateral tonic-clonic seizure	OMIM:618832
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Ataxia, Postural tremor, Unstead...	ORPHA:67036
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Basel-Vanagaite-Smirin-Yosef Syndrome	Aggressive behavior, Inability to walk, Cerebral atrophy, Seizure, Difficulty walking, Cholelithi...	ORPHA:464738
Holoprosencephaly 14	Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W...	OMIM:619895
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Osteochondroma	OMIM:610474
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generaliz...	ORPHA:79241
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon...	ORPHA:177907
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Long...	OMIM:264090
Tuberous Sclerosis Complex	Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co...	ORPHA:805
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia	ORPHA:293173
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Cryptorchidism, S...	ORPHA:459070
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Intrauterine growth retardation	OMIM:611812
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber...	ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Multifocal seizures, Aggressive behavior, Obesity, Hepatosplenomegaly, Seizure, Cho...	OMIM:301066
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla...	OMIM:266810
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Abnormality of the ovary, ...	OMIM:209900
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor...	ORPHA:722
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Hydranencephaly	Stiff neck, Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgen...	ORPHA:2177
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Wide anterior fontanel, Micropenis, Cent...	ORPHA:798
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Joint stiffness, L...	ORPHA:740
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
14Q22Q23 Microdeletion Syndrome	Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, ...	ORPHA:264200
Juvenile Dermatomyositis	Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p...	ORPHA:93672
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz...	ORPHA:466950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Sotos Syndrome	Joint laxity, Hip contracture, Hypospadias, Hypercalcemia, Craniosynostosis, Phimosis, Ankle flex...	ORPHA:821
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Aspartylglucosaminuria	Arthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:93
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Perlman Syndrome	Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age	OMIM:267000
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Bicarbonaturia, Reduced bone mineral density, G...	ORPHA:47159
9Q33.3Q34.11 Microdeletion Syndrome	Inability to walk, Cryptorchidism, Seizure, Dysphagia, Cerebellar vermis atrophy	ORPHA:495818
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Pancreatic hy...	ORPHA:99885
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353277
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Obesity, Generalized non-motor (absence) sei...	ORPHA:466943
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449395
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia	ORPHA:1969
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow...	ORPHA:251071
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Postnatal growth retardation, Sclerosis...	OMIM:269150
Bohring-Opitz Syndrome	Cardiomegaly, Inability to walk, Seizure, Severe failure to thrive, Cholelithiasis, Annular pancr...	ORPHA:97297
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Hallermann-Streiff Syndrome	Hyperactivity, Small for gestational age, Bilateral tonic-clonic seizure, Cryptorchidism, Choreoa...	OMIM:234100
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:144
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Rheumatoid arthritis, Failure to thrive	ORPHA:79128
Attrv30M Amyloidosis	Impotence, Weight loss	ORPHA:85447
Riddle Syndrome	Short stature, Elevated circulating alpha-fetoprotein concentration, Weight loss, Arthritis, Decr...	ORPHA:420741
Fanconi Anemia	Hypospadias, Short stature, Abnormal preputium morphology, Cryptorchidism, Reduced bone mineral d...	ORPHA:84
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Cocaine Intoxication	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,...	ORPHA:90068
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph...	ORPHA:1572
Rat-Bite Fever	Lymphadenitis, Oligoarthritis, Weight loss, Anemia, Arthritis, Septic arthritis, Pancreatitis, Pa...	ORPHA:31205
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss	ORPHA:52417
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Trisomy 10P	Absent gallbladder, Small for gestational age, Seizure, Focal clonic seizure, Dysphagia, Dandy-Wa...	ORPHA:171929
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Osteochondroma, Mild postnatal growth retardation, Growth delay, Osteoma, Rib exostos...	OMIM:150230
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Seizure, Bruxism, Cerebellar corti...	ORPHA:48652
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Supernumerary nipple...	ORPHA:373
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia	ORPHA:93598
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Increased mean platelet volume, Seizure, Dandy-Walker malformation, Thrombocy...	ORPHA:487796
Leptospirosis	Hyperproteinemia	ORPHA:509
Czech Dysplasia	Osteochondroma	OMIM:609162
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to t...	OMIM:220111
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche, Delayed pu...	ORPHA:2976
Short Syndrome	Diabetes mellitus, Severe short stature, Insulin resistance, Weight loss, Joint hyperflexibility	ORPHA:3163
Mercury Poisoning	Hypokalemia	ORPHA:330021
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hyperhidrosis, Glycosuria, Hyp...	ORPHA:466677
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:881
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Elbow...	OMIM:181450
Pseudoaminopterin Syndrome	Short stature, Limited elbow movement, Sagittal craniosynostosis, Cryptorchidism, Patchy reductio...	ORPHA:221120
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Small for gestational age, Thrombocytopenia	OMIM:618775
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia, Polycystic ovaries	ORPHA:137675
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryp...	ORPHA:466791
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,...	OMIM:236680
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Granulomatosis With Polyangiitis	Diabetes insipidus, Elevated circulating C-reactive protein concentration, Weight loss, Abnormali...	ORPHA:900
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thickened cortex of long bones	ORPHA:488434
Stuve-Wiedemann Syndrome 1	Short stature, Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:601559
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic...	ORPHA:100078
Neurofibromatosis Type 1	Astrocytoma, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Chronic mye...	ORPHA:636
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Neoplasm of the skin	ORPHA:53715
Giant Cell Arteritis	Joint stiffness, Mediastinal lymphadenopathy, Weight loss, Arthritis, Hepatic failure	ORPHA:397
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Bilateral tonic-clonic seizure	OMIM:300578
Knobloch Syndrome 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Myoclonic seizure, Seizure	OMIM:267750
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618733
Acute Liver Failure	Adrenal insufficiency, Hyperammonemia, Hypoglycemia	ORPHA:90062
Skin Creases, Congenital Symmetric Circumferential, 1	Cerebellar vermis atrophy, Hypoplastic nipples, Dandy-Walker malformation	OMIM:156610
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Seizure, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati...	ORPHA:774
Alagille Syndrome 1	Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic failure, Cholestasis, Reduced nu...	OMIM:118450
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Anemia, Neutropenia, Pancreati...	ORPHA:537
Perry Syndrome	Weight loss	ORPHA:178509
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, Obesity, Seizure	OMIM:614947
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Tremor, Unsteady gait, Cerebral atrophy, Seizure, Status epilepticus, Myoclo...	ORPHA:442835
Immunodeficiency 59 And Hypoglycemia	Short stature, Hypoglycemia	OMIM:233600
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Chordee, Intrauterine ...	OMIM:619841
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Weight loss	ORPHA:216866
Costello Syndrome	Hyperextensibility of the finger joints, Short stature, Hypoglycemia, Limited elbow movement, Rha...	OMIM:218040
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma, Weight loss	ORPHA:764
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Tolchin-Le Caignec Syndrome	Osteochondroma, Cardiac rhabdomyoma	OMIM:618971
Trisomy 8P	Cryptorchidism, Seizure, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Dandy-Walker ma...	ORPHA:264450
Zttk Syndrome	Absent gallbladder, Seizure, Status epilepticus, Cerebellar hypoplasia, Failure to thrive	OMIM:617140
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Simple Cryoglobulinemia	Viral hepatitis, Arthritis, Chronic lymphatic leukemia, Weight loss	ORPHA:91139
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis	OMIM:240300
Doors Syndrome	Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism, Ambiguous genitalia, S...	ORPHA:79500
Eosinophilic Granulomatosis With Polyangiitis	Arthritis, Eosinophilia, Weight loss	ORPHA:183
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Yao Syndrome	Arthritis, Weight loss	OMIM:617321
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplas...	OMIM:130650
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia	OMIM:273395
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc...	OMIM:618500
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia	ORPHA:1848
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Aspartylglucosaminuria	Macroorchidism	OMIM:208400
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Asplenia, Cerebral atrophy, Abdominal situs inversus, Cerebellar hypoplasia, ...	OMIM:270100
Wolf-Hirschhorn Syndrome	Vertebral fusion, Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryp...	OMIM:194190
Tetrasomy 9P	Absent gallbladder, Hyperactivity, Cryptorchidism, Jaundice, Biliary atresia, Seizure, Inappropri...	ORPHA:3310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchi...	ORPHA:83617
Meckel Syndrome 14	Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus	OMIM:619879
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Cry...	ORPHA:438213
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Cap Polyposis	Weight loss	ORPHA:160148
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Dystonia, Focal-onset seizure, Seizure, Limb dystonia	OMIM:175780
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Humeroradial synostosis, Apl...	ORPHA:2879
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu...	OMIM:301044
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia, Subependymal nodules	ORPHA:25
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Failure to thrive, Neonatal death, Neonatal hypoglycemia	OMIM:617248
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy	OMIM:210730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Truncal obesity,...	OMIM:612474
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Liposarcoma	Weight loss	ORPHA:69078
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne...	ORPHA:1018
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Weight loss, Enlargement of ...	ORPHA:79078
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Isolated Exencephaly	Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes	ORPHA:563612
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Small for gestational age, Biliary atresia, Pancreatic aplasia, Seizure, Aplasia/Hypoplasia of th...	ORPHA:2255
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Generalized-onset seizure, Failure to thrive in infancy, Generalized non-moto...	ORPHA:500150
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Oliver Syndrome	Bilateral tonic-clonic seizure, Supernumerary nipple	ORPHA:2920
Perry Syndrome	Weight loss	OMIM:168605
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Supernumerary nipple, Bifid uterus	ORPHA:1521
Ehlers-Danlos Syndrome, Vascular Type	Short stature, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteolytic...	OMIM:130050
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Behçet Disease	Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Pancreatitis	ORPHA:117
Chromosome 17Q12 Deletion Syndrome	Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor...	OMIM:614527
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Aplasia of the uterus	ORPHA:3320
Oromandibular Dystonia	Weight loss	ORPHA:93958
Acrodermatitis Enteropathica	Failure to thrive, Short stature, Weight loss	ORPHA:37
Nocardiosis	Brain abscess, Liver abscess, Osteomyelitis, Lymphadenitis, Peritonitis, Weight loss, Cutaneous a...	ORPHA:31204
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Holoprosencephaly 1	Short stature, Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Hermansky-Pudlak Syndrome	Neutropenia, Weight loss	ORPHA:79430
Fatal Familial Insomnia	Weight loss	OMIM:600072
Pallister-Hall Syndrome	Osteochondroma, Short stature, Midline facial capillary hemangioma, Large for gestational age, Di...	ORPHA:672
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Diffuse cerebellar atrophy, Testicular neoplasm	ORPHA:71505
Thrombocytopenia-Absent Radius Syndrome	Short stature, Eosinophilia, Pancreatic cysts, Decreased circulating antibody level, Fused cervic...	OMIM:274000
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Pancreatic aplasia	ORPHA:556955
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Humeroradial synostos...	OMIM:276820
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t...	OMIM:271520
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp...	ORPHA:69085
Fanconi Anemia, Complementation Group L	Growth delay, Bone marrow hypocellularity, Aplasia of the uterus, Intrauterine growth retardation...	OMIM:614083
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Coffin-Siris Syndrome 1	Joint laxity, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Aplasia o...	OMIM:135900
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth reta...	OMIM:256520
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion	ORPHA:3109
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Biliary atresia, Seizure, Pancreatic hypoplasia	OMIM:600001
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Flexion contracture, E...	ORPHA:2020
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Joint hypermobility, Aplasia of the uterus	ORPHA:457284
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Abnormal ...	ORPHA:3385
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt...	OMIM:107480
Dermatomyositis	Arthritis, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Reactive Arthritis	Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis	ORPHA:29207
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Aplasia of the uterus, ...	OMIM:618280
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Chronic Graft Versus Host Disease	Phimosis, Flexion contracture, Xerostomia, Weight loss, Arthritis, Abnormal vagina morphology	ORPHA:99921
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Cerebral atrophy, Seizure, Decre...	OMIM:261540
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder	OMIM:617925
Loeys-Dietz Syndrome	Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis, Uterine rupture	ORPHA:60030
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Okamoto Syndrome	Severe postnatal growth retardation, Joint hypermobility, Bifid uterus	ORPHA:2729
Pallister-Killian Syndrome	Anhidrosis, Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic li...	OMIM:601803
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Kabuki Syndrome 1	Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Autoimmune thrombocytopenia, C...	OMIM:147920
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Developmental And Epileptic Encephalopathy 28	Seizure, Status epilepticus, Cerebral atrophy	OMIM:616211

Histopathology

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

There is no histopathology data for Wwox

IMPC related publications

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

No publications found that use IMPC mice or data for Wwox.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Wwox^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wwox^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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