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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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-Sch├Ânberg 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
M├╝llerian 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