| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| 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 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... |
ORPHA:300385 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... |
ORPHA:453533 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Growth delay, Ankle clonus, Fascic... |
OMIM:620323 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears |
ORPHA:436151 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Small pituitary ... |
OMIM:612702 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gr... |
OMIM:616113 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ... |
ORPHA:705 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... |
ORPHA:2589 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... |
ORPHA:95434 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Posteriorly rotated ea... |
OMIM:619476 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping |
OMIM:300624 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus, Hearing impairment |
OMIM:159800 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Rigidity, Optic atrophy, Growth delay, Focal T2 hyperintense thalamic lesio... |
OMIM:619057 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, Limb ataxia, Gait at... |
OMIM:605259 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura... |
OMIM:614195 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Spastic tetraplegia, Small pituitary gland |
OMIM:617395 |
| Cog2-Cdg |
|
Spastic tetraplegia, Small pituitary gland |
ORPHA:435934 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Septooptic Dysplasia |
|
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ant... |
OMIM:182230 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling, Low-set ears, Neonatal death |
OMIM:614870 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Hypogonadotropic hypogonadism, Aplasia of the s... |
ORPHA:648 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Proportionate short stature... |
ORPHA:54595 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati... |
ORPHA:300373 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Decre... |
ORPHA:157954 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia,... |
OMIM:615993 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Hearing impairment, Impaired d... |
OMIM:616688 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Short stature, Hypothyroidism |
OMIM:275120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... |
OMIM:618718 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:620270 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Postnatal growth retardation, Thalamic edema, Spastic diplegia, Opisthoto... |
ORPHA:2177 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... |
ORPHA:251061 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Ataxia, Myoclonus, Spasticity |
OMIM:545000 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia, Hyperkinetic movements |
ORPHA:397933 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cer... |
ORPHA:3327 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... |
ORPHA:1435 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Optic ner... |
ORPHA:3157 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Facial palsy, Unilateral renal agenesis, Dilatated i... |
OMIM:113650 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:616981 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior |
OMIM:300983 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Paresthesia, F... |
ORPHA:93921 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus... |
ORPHA:391417 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
| Congenital Disorder Of Glycosylation, Type In |
|
Short stature, Ataxia, Sensorineural hearing impairment, Myoclonus, Spasticity |
OMIM:612015 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Sandhoff Disease, Adult Form |
|
Tremor, Spasticity, Fasciculations, Gait ataxia |
ORPHA:309169 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Microtia, Polycystic kidne... |
ORPHA:1988 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... |
ORPHA:226307 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Sensorineural hearing impairment, Slurred speech, Myoclonus, Goiter |
OMIM:274240 |
| Fg Syndrome Type 1 |
|
Short stature, Optic nerve hypoplasia, Cryptorchidism, Sensorineural hearing impairment, Cupped e... |
ORPHA:93932 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Hyperkinetic movements, Choreoathetosis, Myoclonus |
OMIM:618497 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:91355 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Large fleshy ears, Low-set ears, Polycystic kidney dysplasia, Decreased... |
OMIM:263210 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Diabetes mellitus, Short stature, Fasciculations |
OMIM:610717 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Hypothyroidism, Myoclonus |
OMIM:619647 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Impaired temperature sensation, Precocious pub... |
ORPHA:398079 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic moveme... |
ORPHA:457240 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... |
ORPHA:96148 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cort... |
OMIM:231680 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis... |
OMIM:613095 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... |
OMIM:620021 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te... |
OMIM:618598 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Charge Syndrome |
|
Hypoparathyroidism, Mixed hearing impairment, Hypogonadotropic hypogonadism, Decreased response t... |
OMIM:214800 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Craniosynostosis, Sensorineural hearing impairment, Cupped ear, Dilata... |
ORPHA:314588 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Vertigo, Hyperkinetic movements, Tinnitus |
ORPHA:209970 |
| Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment |
ORPHA:140976 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Hy... |
ORPHA:91351 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f... |
ORPHA:276435 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Vertigo, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasci... |
ORPHA:276198 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Short stature, Impaired temperature sensation, Precocious puberty, Cryptorchi... |
ORPHA:398069 |
| Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Impaired... |
ORPHA:739 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Stillbirth, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus, Hearing impairment |
OMIM:609056 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... |
OMIM:615849 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Low-set ears... |
ORPHA:261290 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Hepatomegaly, Posteriorly rotated ears, Long-chain dic... |
OMIM:608836 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Choreoathetosis, Myoclonus, Progressive sensorineural hearing impairment, Frequent falls |
OMIM:301020 |
| Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Myoclonus |
OMIM:618285 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... |
OMIM:614104 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, ... |
ORPHA:2590 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Hearing impairment |
ORPHA:139485 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... |
ORPHA:90695 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... |
OMIM:619092 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Low-set ears, Maternal diabetes |
ORPHA:563612 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... |
OMIM:613457 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism,... |
OMIM:206900 |
| Alobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:220386 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Posteriorly rotated ears, Disproportionate short-limb short stature, Low-s... |
OMIM:619479 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic cysts, Splenomegaly, Stage 5 chronic kidney disease... |
OMIM:208540 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Progressive hearing impairment, Hypogonadism, Ab... |
ORPHA:97229 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... |
OMIM:618342 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Puberty and gonadal d... |
ORPHA:464282 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
| Episodic Ataxia, Type 5 |
|
Ataxia, Vertigo, Myoclonus, Truncal ataxia, Episodic ataxia |
OMIM:613855 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Sensorineural hearing impairment, Myoclonus, Dysmetria |
OMIM:618251 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Spasticity, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Fasciculations, Distal sensory impairment |
OMIM:606595 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth retardation, Spasticity |
OMIM:617065 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308700 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia |
OMIM:616540 |
| Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
| Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation... |
OMIM:614153 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
| Foxg1 Syndrome |
|
Short stature, Choreoathetosis, Severe postnatal growth retardation, Hyperkinetic movements, Myoc... |
ORPHA:561854 |
| Ataxia-Telangiectasia-Like Disorder |
|
Hypergonadotropic hypogonadism, Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadoch... |
ORPHA:251347 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Short stature, Optic nerve hypoplasia, Ataxia, Gait ... |
OMIM:617302 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Spasticity |
OMIM:615924 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... |
OMIM:617695 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98754 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... |
OMIM:615491 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
| Narp Syndrome |
|
Optic disc pallor, Short stature, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasm... |
ORPHA:644 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... |
OMIM:617303 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Craniosynostosis, Macroscopic hematuria, E... |
ORPHA:251004 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Optic nerve dysplasia, Aminoaciduria, Abnormal helix morphology, Polycystic kidney ... |
OMIM:214110 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Short stature, Anterior pituitary hypoplasia, Adre... |
ORPHA:264200 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormal pinna morphology, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric acid... |
ORPHA:26791 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98793 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Uplifted earlobe |
OMIM:300143 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177904 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177901 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Pancreatic cysts, Splenomegaly, Sensorineura... |
OMIM:610199 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus |
OMIM:613608 |
| Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Positi... |
OMIM:607136 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Action tr... |
OMIM:619738 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
| Microtriplication 11Q24.1 |
|
Attached earlobe, Speech apraxia, Posteriorly rotated ears, Short stature, Hyperkinetic movements... |
ORPHA:289522 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Paroxysmal vertigo, Myoclonus, Truncal ataxia, Morning myoclonic jerks, Episodic ataxia |
OMIM:607682 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Cryptorchidism, Sensorineural hearing impairment, Hyperkinetic movements, ... |
OMIM:300957 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... |
ORPHA:2235 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function... |
ORPHA:352596 |
| Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sensation, Optic atrophy... |
ORPHA:98768 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Splenomegaly, Sensorineural hearing impairment, Optic nerve dysplasia,... |
OMIM:614866 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal growth retar... |
OMIM:614732 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Abnormal pinna morphology, Craniosynostosis, Low-set ears, Cystic renal dysplasia, ... |
OMIM:200995 |
| Apert Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Ovarian ... |
ORPHA:87 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... |
ORPHA:95494 |
| Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
| Huntington Disease-Like 1 |
|
Restlessness, Jerky head movements, Abnormal head movements |
ORPHA:157941 |
| Deeah Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:617493 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, Onychotillomania, Abnorm... |
OMIM:182290 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Protruding ear |
ORPHA:3270 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Agitation, Macrotia |
OMIM:300558 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Short stature, Limb tremor, Myoclonus |
OMIM:300699 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia |
ORPHA:35125 |
| Xq28 (MECP2) duplication |
|
Macrotia, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Unilateral renal agenesis, Ovarian cyst, Subperiosteal bone formation, Low-set ears, ... |
OMIM:618188 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movements, Bilateral sensorineura... |
OMIM:620089 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... |
OMIM:600882 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Hand tremor, Myoclonus |
OMIM:608105 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Decreased circulating luteinizing hormo... |
OMIM:619761 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Focal segmental glomerulo... |
OMIM:232220 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Protruding ear, Polycystic kidney dysplasia, Vesicoureteral reflux, Ma... |
OMIM:606232 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Vertigo, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyra... |
ORPHA:79279 |
| Christianson Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Tr... |
ORPHA:478 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Osteolysis, Hepatosplenomegaly, Multiple renal cysts, Enlarged ki... |
ORPHA:464329 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Giant Axonal Neuropathy |
|
Facial palsy, Babinski sign, Abnormal pituitary gland morphology, Distal sensory impairment, Spas... |
ORPHA:643 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Re... |
OMIM:243910 |
| Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Choreoathetosis, Myoclonus |
OMIM:261630 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypoplasia of the ovary, ... |
OMIM:618841 |
| Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:615338 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Fasciculations, Distal sensory impairment |
OMIM:137200 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Hypospadias, Renal cyst |
OMIM:231060 |
| Dystonia 23 |
|
Torticollis, Myoclonus, Head tremor |
OMIM:614860 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dys... |
OMIM:183090 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... |
OMIM:164400 |
| Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticity, Palatal tremor |
ORPHA:363717 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Optic atrophy, Myoclonus, Ataxia |
OMIM:256730 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Low-set ears, Neonatal death, Renal ... |
OMIM:236500 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T... |
ORPHA:454887 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:617829 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... |
ORPHA:95433 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| H Syndrome |
|
Abnormality of the kidney, Osteolysis, Hepatosplenomegaly, Micropenis, Enlarged kidney, Hearing i... |
ORPHA:168569 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... |
ORPHA:3306 |
| Developmental And Epileptic Encephalopathy 23 |
|
Abnormal pinna morphology, Myoclonus |
OMIM:615859 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Craniosynostosis, Abnormal pinna morphology, Sensorine... |
DECIPHER:81 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Abnor... |
ORPHA:70595 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe |
ORPHA:411986 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Impaired proprioception, Brady... |
ORPHA:98755 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hypospadias, Osteoporosis, Renal cyst, Foot acroosteolysis, Osteolytic defects of the... |
OMIM:102500 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chin myoclonus, Myoclon... |
ORPHA:263516 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts, Absent or minimally ossified vertebral bodies |
ORPHA:66637 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Hyperkinetic movements, Low-set ears, Hypoplasia of the antihelix, Spasticity, Hea... |
OMIM:616420 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity |
OMIM:616139 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... |
OMIM:619725 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| Ogden Syndrome |
|
Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:369939 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
| Meckel Syndrome 14 |
|
Low-set ears, Decreased calvarial ossification, Polycystic kidney dysplasia |
OMIM:619879 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus |
OMIM:619651 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, C... |
OMIM:617854 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... |
OMIM:618430 |
| Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:248111 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Short stature, Sensorineural hearing impairment, Facial diplegia, Athetosis, Hyperkinetic movemen... |
OMIM:612073 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Short stature, Abnormality of the anterior pituitary, Posterior pituit... |
ORPHA:75389 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq... |
OMIM:159950 |
| Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Myoclonus |
OMIM:619303 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Hypogonadotropic hypogonadism, Facial palsy, Po... |
ORPHA:138 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
| Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
| Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment |
OMIM:610883 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... |
OMIM:109150 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Rena... |
OMIM:276700 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ataxia, Babinski sign, Optic atrophy, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
| Say Syndrome |
|
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramidal sign, Gait ataxia, ... |
ORPHA:363400 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... |
ORPHA:391428 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Tongue fasciculations, Low-set ears, Fasciculations, Intrauterine growth retardation, Spasticity |
OMIM:618065 |
| Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Protruding ear, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas... |
OMIM:607596 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus... |
ORPHA:401866 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Fasciculations, D... |
OMIM:614436 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculomotor... |
OMIM:614487 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:204200 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Protruding ear, ... |
ORPHA:464306 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Short stature, Clonus, Cryptorchidism, Sensorineural hearing impairment, Babinski... |
OMIM:619847 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Hearing impairment |
ORPHA:207 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Optic atrophy, Severe postnatal growth retardation, Hypertonia, Myoclo... |
ORPHA:3078 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, ... |
ORPHA:79328 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
| Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
| Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Fa... |
ORPHA:309162 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Cryptorchidism, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Hyperto... |
OMIM:614969 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Splenomegaly, Oliguria... |
ORPHA:731 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Low-set ears, St... |
OMIM:123450 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Sensorineural hearing impairment, I... |
OMIM:151050 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
| Developmental And Epileptic Encephalopathy 109 |
|
Intrauterine growth retardation, Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Optic atrophy, Hepatosplenomegaly, Nephrotic syn... |
ORPHA:505248 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Fascicu... |
OMIM:604484 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Precocious puberty, Tremor, Optic atrophy, Abnormal... |
ORPHA:845 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Stage 5 chronic kidney dise... |
ORPHA:79259 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Microtia, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal helix morphology, ... |
ORPHA:401777 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia |
ORPHA:990 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... |
OMIM:618356 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H... |
OMIM:618161 |
| Distal Deletion 12Q |
|
Ectopic kidney, Prominent ear helix, Congenital hypertrophy of left ventricle, Microtia, Bilatera... |
ORPHA:96149 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Multifocal ... |
OMIM:615398 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus |
ORPHA:139406 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia |
ORPHA:324588 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Myoclonus, Tetraparesis, Spasticity, Hearing impairment |
OMIM:618972 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Opti... |
ORPHA:442835 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Incoordination, Short stature, Atax... |
ORPHA:209905 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydroneph... |
OMIM:236700 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculom... |
ORPHA:313772 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Distal sensory impairment, ... |
OMIM:616505 |
| Leigh Syndrome |
|
Ataxia, Involuntary movements, Sensorineural hearing impairment, Chorea, Optic atrophy, Abnormal ... |
ORPHA:506 |
| Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Paralysis, Tremor, Ver... |
ORPHA:297 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia |
OMIM:617802 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Macrotia, Sensorineural hearing impairment, Prot... |
ORPHA:500095 |
| Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Low-set ears, Hepatic c... |
OMIM:311200 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Posteriorly rotated ears, Abnormality of the ureter, Aplasia of the bladder, Low-... |
OMIM:200980 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Short stature, Optic atrophy, Spastic tetraplegia, Opisthotonus, Large earlobe, Hypertonia, Myocl... |
OMIM:615851 |
| D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity, Hearing impairment |
ORPHA:941 |
| Peho-Like Syndrome |
|
Optic atrophy, Myoclonus |
OMIM:617507 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Ataxia, Myoclonus, Hearing impairment |
OMIM:560000 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, En... |
OMIM:252500 |
| Adenylosuccinase Deficiency |
|
Opisthotonus, Growth delay, Gait ataxia, Myoclonus, Low-set ears, Hemiplegia, Spasticity |
OMIM:103050 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re... |
OMIM:300912 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
| Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:53035 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618205 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Aganglionic megacolon, Splenomegaly, Conductive hearing impairment, Optic atrophy, R... |
ORPHA:567 |
| Meacham Syndrome |
|
Neonatal death, Enlarged kidney, Stillbirth, Horseshoe kidney |
OMIM:608978 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Abnormal repetitive mannerisms |
OMIM:617807 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Nephrogenic diabetes insipidus, Sensorineural hearing impairment, Myoclonus, Neonatal death, Cent... |
OMIM:620167 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Hoffma... |
ORPHA:139396 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177907 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Athetosis, Optic atrophy, Myoclonus |
OMIM:618241 |
| Verheij Syndrome |
|
Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Fasciculations |
OMIM:615290 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
| Sialidosis Type 1 |
|
Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm... |
ORPHA:812 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Uplifted earlobe, Cryptorchi... |
OMIM:619841 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnormal repetitive m... |
OMIM:300260 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
| Coach Syndrome 1 |
|
Hepatomegaly, Optic disc pallor, Unilateral renal agenesis, Splenomegaly, Multiple small medullar... |
OMIM:216360 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Hyperkinetic movements, Macrotia, Ataxia, Truncal ataxia |
OMIM:300243 |
| Nipah Virus Disease |
|
Tremor, Vertigo, Myoclonus |
ORPHA:99825 |
| Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
| Syndromic Diarrhea |
|
Splenomegaly, Hepatomegaly, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... |
OMIM:619103 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... |
OMIM:618877 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating ... |
ORPHA:525731 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Cryptorchidism, Limb hypertonia, Fasciculations, Intrauteri... |
OMIM:620327 |
| Neuraminidase Deficiency |
|
Short stature, Sensorineural hearing impairment, Slurred speech, Dysmetria, Myoclonus |
OMIM:256550 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hyperkinetic movements, ... |
OMIM:616271 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Cryptorchidism, Chorea, Progressive cerebellar ataxia, Upper limb spastici... |
ORPHA:485350 |
| Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Spasticity, Hea... |
ORPHA:93399 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Large earlobe, Low-set ears, Dysphagia, Conductive hearing impa... |
OMIM:619312 |
| Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, T2 hypointense thalamus, Chorea, Babinski si... |
ORPHA:157846 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... |
OMIM:616393 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
EEG with burst suppression, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
| Sialuria |
|
Cholelithiasis, Hyperkinetic movements, Low-set ears |
ORPHA:3166 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614862 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Otosclerosis, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hy... |
ORPHA:116 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Short stature, Uplifted earlobe, Cryptorchidism, Babinski sign, Myoclonus, Sp... |
ORPHA:364028 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon, Low-set ears |
ORPHA:2570 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Progressive hearing impairment, Disinhibition, Attention defi... |
ORPHA:43 |
| Roberts Syndrome |
|
Craniosynostosis, External ear malformation, Long penis, Polycystic kidney dysplasia, Absent earlobe |
ORPHA:3103 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:252920 |
| Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms |
ORPHA:280763 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:619503 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Protruding ear, Polycystic kidney dysplasia, Low-set ear... |
OMIM:300855 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness |
OMIM:616579 |
| Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
OMIM:619435 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations |
OMIM:313200 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
| Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia |
OMIM:250620 |
| Gaucher Disease, Type Iii |
|
Short stature, Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... |
ORPHA:53351 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:10 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Abnormality of cartilage of external ear, Precocious puberty, Hand tremor, Myoclon... |
ORPHA:324313 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki... |
OMIM:249000 |
| Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
| Hyperekplexia 4 |
|
Hypertonia, Myoclonus |
OMIM:618011 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphys... |
OMIM:601539 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Short stature, Clonus, Ataxia, Babinski sign, Opisthotonus, Growth delay, Large earlobe, Limb hyp... |
OMIM:618076 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness... |
ORPHA:88644 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
| Developmental And Epileptic Encephalopathy 89 |
|
Asymmetry of the ears, Hypertonia, Hyperkinetic movements, Tetraparesis, Low-set ears, Neonatal d... |
OMIM:619124 |
| Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Spastic tetraparesis, Optic atrophy, Myoclonus, Low-set ears, Hearing impairment |
OMIM:614261 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short stature, Ataxia, Postnatal growth retardation, Spastic paraplegia, Decreased thalamic volum... |
ORPHA:168577 |
| Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Renal hypoplasia, Renal cyst, Stillbirth, Microtia, Polycystic k... |
OMIM:210710 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Growth delay, Choreoathetosis, Hypertonia, Abn... |
ORPHA:445038 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
| Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Myoclonus, L... |
OMIM:620352 |
| Trisomy 13 |
|
Sensorineural hearing impairment, Abnormality of the ureter, Optic atrophy, Abnormal antihelix mo... |
ORPHA:3378 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Facial palsy, Cupped ear, Enuresis ... |
OMIM:615873 |
| Saethre-Chotzen Syndrome |
|
Short stature, Prominent crus of helix, External ear malformation, Sensorineural hearing impairme... |
ORPHA:794 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal cyst, Protruding ear |
ORPHA:2031 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Episodic ataxia, Choreoathetosis, Myoclonus |
OMIM:312170 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
| Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Sensorineural hearing impairme... |
OMIM:220500 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low... |
ORPHA:508 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Hyperkinetic movements |
OMIM:236270 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, Hypertonia, Abnormality of the diencephalon, Hearing impairment |
ORPHA:2720 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic tetraplegia, Opisthotonus, Grow... |
OMIM:220120 |
| Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus ... |
ORPHA:314621 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Hearing impairment |
OMIM:616672 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... |
ORPHA:206436 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609727 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Righ... |
OMIM:607426 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, External ear malformation, Sensorineural... |
ORPHA:912 |
| White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
OMIM:616364 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
| Lennox-Gastaut Syndrome |
|
Myoclonus |
ORPHA:2382 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchi... |
ORPHA:466791 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Low-set ears, Enlarged kidney |
OMIM:306955 |
| Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
| Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Fasciculations |
OMIM:608627 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:615656 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:300986 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... |
OMIM:212066 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Craniosynostosis, Renal cyst, Horseshoe kidney, Low-set ears, Macrotia |
ORPHA:166035 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor |
OMIM:610539 |
| Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal pinna morphology, Abnormal renal collecting system morphology, Low-set e... |
OMIM:134780 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... |
ORPHA:435638 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Protruding ear, Microtia, Low-set ears |
OMIM:618829 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Rickets, Renal cyst |
ORPHA:79303 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic s... |
ORPHA:110 |
| Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive hearing impairment,... |
ORPHA:819 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Mult... |
ORPHA:1318 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism, Protruding ear |
OMIM:613454 |
| Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ... |
OMIM:618733 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Spasticity, Myoclonus |
ORPHA:309155 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity |
OMIM:221770 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Chronic otitis media, Spasticity, Darwin tubercle of helix, Myoclonus |
OMIM:612949 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
| Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Myoclonus |
OMIM:609241 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Abnormal repetitive mannerisms, Underfolded superior helices, Attention deficit hyperactivity dis... |
OMIM:300352 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Short stature, Cranial nerve compression, Abnormal motor neuron mo... |
ORPHA:52430 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, Nep... |
ORPHA:369837 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Optic atrophy, Tetraplegia, Growth delay, Fasciculations, Progressive spasticity, Cataple... |
ORPHA:496641 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... |
ORPHA:261197 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Spasticity, Hearing impairment |
ORPHA:93400 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:168593 |
| Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Optic atroph... |
ORPHA:90321 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Fasciculations |
ORPHA:206546 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Ataxia, Impaired distal proprioception, Hypoesthesia, Sensorineural... |
OMIM:607459 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
| Cystic Echinococcosis |
|
Hepatomegaly, Bone cyst, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Hypertonia, Myoclonus, Spastic tetraparesis |
ORPHA:284417 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... |
OMIM:619575 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Fasciculations, Fre... |
ORPHA:521411 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Macrotia, Posteriorly rotated ears |
OMIM:619980 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Short stature, Myoclonus |
ORPHA:289266 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Cupped ear, Microtia, Myoclonus, Intrauterine growth retardation |
ORPHA:1352 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:163921 |
| Mepan Syndrome |
|
Ataxia, Chorea, Optic atrophy, Myoclonus, Spasticity |
ORPHA:508093 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis, Low-set ears, Protruding ear |
ORPHA:73246 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Abnormality of the ure... |
ORPHA:261318 |
| 2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Short stature, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic movements, Truncal... |
OMIM:615356 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Optic atrophy, Myoclonus, Hearing impairment |
OMIM:617669 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:2479 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Low-set ears |
ORPHA:2165 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Hearing impairment, Splenomegaly, Renal cyst, Anterior creases of earl... |
OMIM:312870 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Craniosynostosis, Renal cyst, Horseshoe kidney, Low-set ears, Macrotia |
OMIM:250410 |
| Joubert Syndrome 14 |
|
Low-set ears, Optic atrophy, Renal cyst, Posteriorly rotated ears |
OMIM:614424 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Low-set ears, Mixed hearing impairment, Cupped ear, Renal cyst |
OMIM:615560 |
| White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
ORPHA:468678 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
| Microcephaly, Amish Type |
|
Optic atrophy, Myoclonus, Limb hypertonia |
OMIM:607196 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Renal cyst, Vesicourete... |
ORPHA:261494 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Ataxia, Supernumerary nipple, Oculomotor apraxia, Cupped ear, Growth delay... |
ORPHA:247262 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Posteriorly rotated ears, Distal urethral duplication, Ectopic kidn... |
OMIM:146510 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Apr... |
OMIM:607822 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Severe short stature, Optic nerve hypoplasi... |
ORPHA:468631 |
| Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... |
OMIM:133540 |
| Pseudohypoparathyroidism Type 1B |
|
Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, E... |
ORPHA:94089 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... |
ORPHA:466768 |
| Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Paresthesia, Pseudohypoparathyroidism, Myoclonic ... |
ORPHA:94090 |
| Pseudohypoparathyroidism Type 1A |
|
Short stature, Decreased response to growth hormone stimulation test, Reduced circulating prolact... |
ORPHA:79443 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... |
ORPHA:261265 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Myoclonus |
OMIM:619060 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... |
ORPHA:1297 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Neon... |
OMIM:605711 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Abnormal repetitive mannerisms, Low-set ears, Aggressive behavior |
ORPHA:457279 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal pinna morphology, Renal hypoplasia, Low-set ears, Polycystic ... |
ORPHA:3404 |
| Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:887 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy... |
ORPHA:3301 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Protruding ear |
ORPHA:2115 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Short stature, Female hypogonadism, Ataxia, Tremor, Slurred speech, Choreoathe... |
OMIM:208900 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... |
OMIM:181450 |
| Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Macr... |
OMIM:212065 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... |
ORPHA:79330 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... |
OMIM:216400 |
| Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Frequ... |
ORPHA:329478 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Protruding ear, Bile duct proliferation, Low-set ea... |
OMIM:619534 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Renal cyst, Low-set ... |
OMIM:261515 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Posteriorly rotated ears, Craniosynostosis, Abnormal pinna morphology, Long penis, H... |
OMIM:268300 |
| Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
| Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Myoclonus, Conductive hear... |
OMIM:615816 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis, Low-set ears |
ORPHA:261344 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Hand tremor, Head tremor |
OMIM:619724 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, EEG with burst suppression, Renal cyst, Low-set ears, Renal dysplasia |
OMIM:617260 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Bilateral sensorineural hearing impa... |
OMIM:618321 |
| Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal incisura morphology, Conductive hearing impair... |
OMIM:122470 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Facial palsy, Optic nerve hypoplasia, Optic atrophy, Protruding ear... |
ORPHA:261349 |
| Atelosteogenesis Type I |
|
Low-set ears, Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Ab... |
ORPHA:1190 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Short stature, Hypogonadotropic hypogonadism, Abnormal cen... |
ORPHA:550 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Paresth... |
ORPHA:2912 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... |
OMIM:608643 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:457351 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus, Low-set ears |
OMIM:258850 |
| Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
| Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus, Low-set ears |
ORPHA:2752 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... |
ORPHA:171695 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Posteriorly rotated ears, Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Low-se... |
OMIM:618454 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Renal cortical cysts, Renal cyst, Low-set ears, Micropenis, Penile hyp... |
ORPHA:1692 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Optic disc coloboma, Renal cyst, Low-set ears, Nephronophthisis |
OMIM:608091 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Upper limb spasticity, Myoclonus... |
OMIM:619229 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ears, Renal cyst, ... |
OMIM:257300 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations |
ORPHA:682 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619121 |
| Galloway-Mowat Syndrome 10 |
|
Myoclonus, Congenital hypothyroidism |
OMIM:619609 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Fa... |
OMIM:268800 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Renal cyst, Stillbirth, Macrotia, Unicoronal synostosis |
OMIM:616300 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Growth delay, Choreoathetosis, Hypertonia, Hyperkinetic movemen... |
ORPHA:17 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... |
ORPHA:96121 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal ... |
OMIM:301072 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... |
ORPHA:909 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Vesicourete... |
OMIM:618460 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Fasciculations |
ORPHA:209335 |
| Pitt-Hopkins Syndrome |
|
Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms |
OMIM:610954 |
| Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Bilateral sensorineural hearing... |
ORPHA:300570 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma... |
OMIM:615485 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Low-set ears |
ORPHA:2075 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619428 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Myoclonus, Hearing impairment |
OMIM:614946 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Self-injurious behavio... |
OMIM:619512 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:99880 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Short stature, Ataxia, Vocal cord paralysis, Growth delay, Hyperkinetic mo... |
OMIM:617799 |
| Fabry Disease |
|
Paresthesia, Abnormal autonomic nervous system physiology, Fasciculations, Delayed puberty |
OMIM:301500 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Early ossification of... |
OMIM:208500 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Short stature, Sensorineural hearing impairment, Pineal cyst, Fasciculations |
ORPHA:98908 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal cysts, E... |
OMIM:193300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Hepatomegaly, Posteriorly rotated ears, Craniosynostosis, Pancr... |
OMIM:266920 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Hearing impairment |
ORPHA:90024 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:143 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Optic disc coloboma, Renal cyst, Low-set ears, Nephropathy |
OMIM:213300 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Optic disc pallor, Ataxia, Myoclonus |
OMIM:619167 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Peho Syndrome |
|
Optic atrophy, Myoclonus |
OMIM:260565 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Myoclonus |
ORPHA:79096 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Myoclonus, Low-set ears |
ORPHA:314655 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Ataxia, Rigidity, Vertigo, Myoclonus, Limb myoclonus |
ORPHA:1183 |
| Norrie Disease |
|
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... |
ORPHA:649 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Optic disc colobom... |
ORPHA:1454 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Low-set ears, Hearing impairment |
ORPHA:85201 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Macrotia, Sensorineural hearing impairment, Renal cyst, Protruding ear, Nephro... |
OMIM:617107 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Bone cyst, Renal cyst, Abnormal bladder morphology, Hepatic cysts |
ORPHA:284 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... |
OMIM:301040 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Fetal pyelectasis, Bilateral renal... |
ORPHA:49 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ear, Micropenis... |
ORPHA:464311 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... |
ORPHA:476126 |
| Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Short stature, Ataxia, Sensorineural hearing impairment, My... |
ORPHA:443811 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
| Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus |
OMIM:619814 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
| Angelman Syndrome |
|
Optic disc pallor, Precocious puberty in females, Ataxia, Tremor, Optic atrophy, Myoclonus, Delay... |
ORPHA:72 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Low-set ears, Hydro... |
ORPHA:99776 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
| Fatal Familial Insomnia |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
OMIM:600072 |
| Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Stenosis of the external auditory ca... |
ORPHA:233 |
| Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
| X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Involuntary movements, Asymmetry of the ears, Cryptorchidism, Cupped ear, Abnormal... |
ORPHA:3063 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, Renal hypoplasia... |
OMIM:269860 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... |
OMIM:613254 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol... |
ORPHA:2059 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hearing impairment, Renal hypoplasia/aplasia, Horseshoe kidney, Low... |
ORPHA:2092 |
| Joubert Syndrome 21 |
|
Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal cyst, Hyperec... |
OMIM:615636 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Head titubation, Repetitiv... |
OMIM:619475 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity |
ORPHA:500144 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus |
OMIM:616158 |
| Rett Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Growth delay, Myoclonus, Spastic tetraplegia |
OMIM:614462 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... |
ORPHA:580 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Renal insufficiency, Renal cyst |
OMIM:617478 |
| Rheumatic Fever |
|
Hemiballismus, Chorea, Fasciculations |
ORPHA:3099 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Chorea, Optic atrophy, Athetosis, Hyperkinetic movements, Myoclonus, Oculomoto... |
ORPHA:404454 |
| Cog8-Cdg |
|
Ataxia, Myoclonus |
ORPHA:95428 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nephrol... |
ORPHA:798 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena... |
OMIM:270400 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Cerebral palsy, Posteriorly rotated ears, Sensorineural hearing impairment, Congenital hypothyroi... |
OMIM:616973 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
| Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system |
ORPHA:43116 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Limb tremor, Head tremor, Myoclonus |
ORPHA:420492 |
| Whipple Disease |
|
Hypothyroidism, Abnormal pyramidal sign, Ataxia, Myoclonus |
ORPHA:3452 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Renal cyst, Stillbirth,... |
OMIM:229850 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Hypospadias, Hearing impairment, Splenomegaly, Osteoporosis, Osteolysis... |
ORPHA:955 |
| Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Posteriorly rotated ears, Ectopic kidney, Horseshoe kidney, Renal... |
OMIM:117650 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Sensorineural hearing impairmen... |
OMIM:616975 |
| Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe, Abnormal repe... |
OMIM:617330 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Recurrent otitis media, Abnormal repetitive mannerisms, Posteriorly rotated ears, Aggressive beha... |
OMIM:301066 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618653 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Myoclonus, Neonatal death, Intrauterine growth retardation |
OMIM:619055 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Facial palsy, Craniofacial osteosclerosis... |
OMIM:300373 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... |
ORPHA:513456 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cupped ear, Protruding ear, Low-set ears, Abnormal repet... |
OMIM:309590 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ... |
OMIM:614756 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Aggressive behavior, Hair-pulling, Polyphagia, Protruding ... |
OMIM:620330 |
| Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Cataplexy... |
ORPHA:646 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
| Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
| African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
| Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Cryptorchidism, Optic atrophy, Hypertonia, Myoclonus, Fasciculations, Spas... |
ORPHA:284339 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Proteinuria, Osteomalacia... |
ORPHA:534 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... |
ORPHA:861 |
| Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Involuntary movements, Orthostatic tachycardia, Neopla... |
ORPHA:217253 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:2538 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus |
OMIM:168601 |
| Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Reduced bone mi... |
ORPHA:2750 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Craniosynostosis, Splenomegaly, Renal cyst, Low-set ears, Left... |
OMIM:613610 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus, Horner syndrome |
OMIM:256700 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Osteolysis, Nephroblastoma, Hear... |
ORPHA:1052 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Myoclonic spasms, Hyperkinetic movements |
ORPHA:73224 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Reduced bone mineral density |
ORPHA:1556 |
| Lathosterolosis |
|
Intrauterine growth retardation, Myoclonus, Hearing impairment |
ORPHA:46059 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Prominent antihelix, R... |
OMIM:616268 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Glycosu... |
ORPHA:699 |
| Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Renal cyst, Sensorineural hearing impairment |
OMIM:272460 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Optic atrophy, Hematuria, Multiple renal cysts, Renal ang... |
ORPHA:538 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, S... |
ORPHA:1606 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
| Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Multicystic kidney dysplasia, Atresia of the external auditory canal |
ORPHA:1393 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:818 |
| Farber Disease |
|
Paraparesis, Spasticity, Short stature, Myoclonus |
ORPHA:333 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Hypoplasia of penis, Multicystic kidney ... |
ORPHA:373 |
| Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
| Von Hippel-Lindau Disease |
|
Papilledema, Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multip... |
ORPHA:892 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephro... |
ORPHA:1507 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... |
OMIM:619325 |
| Listeriosis |
|
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus, Hearing impairment |
ORPHA:533 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Low-set ears, Micrope... |
ORPHA:1596 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Low-set ears, Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Protruding... |
ORPHA:904 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears, W... |
ORPHA:97360 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Abnormal pelvis bone ossification, Renal hypoplasia,... |
ORPHA:93271 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:508498 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic... |
ORPHA:564 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Tremor, Choreoathetosis, Myoclonus, Episodic ataxia, Spasticity |
ORPHA:1934 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Optic atrophy, Renal hypoplasia/aplasia |
ORPHA:991 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms, Overfolded helix, Posteriorly rotated ears |
OMIM:301044 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508533 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
| Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi... |
OMIM:107480 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the earlob... |
ORPHA:2308 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Short stature, Involuntary movements, Abnormalit... |
ORPHA:438213 |
| Ethylene Glycol Poisoning |
|
Slurred speech, Ataxia, Facial palsy, Myoclonus |
ORPHA:31826 |
| Proteus Syndrome |
|
Craniosynostosis, Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cyst, Hyperostosis... |
ORPHA:744 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Chorea, Myoclonus, Gait ataxia |
OMIM:619777 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attention deficit hyperactivity diso... |
OMIM:619522 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Bile duct proliferation, Myoclonus, Tetraparesis |
OMIM:203700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Optic nerve dysplasia, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:2052 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... |
OMIM:612474 |
| Dystonia-Aphonia Syndrome |
|
Myoclonus |
ORPHA:412217 |
| Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Facial palsy, Posteriorly rotated ears, Sensorineural hearing impair... |
OMIM:113620 |
| Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced... |
OMIM:259050 |
| Lafora Disease |
|
Ataxia, Myoclonus, Erratic myoclonus, Spasticity, Giant somatosensory evoked potentials |
ORPHA:501 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horses... |
ORPHA:1308 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Conductive hearing impairment, Steno... |
OMIM:194190 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Abnormal earlobe morphology, Horseshoe kidne... |
ORPHA:3310 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia... |
ORPHA:709 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Hypertonia, Ataxia, Myoclonus |
OMIM:618426 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
| Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Multicystic kidney d... |
ORPHA:199 |
| Doors Syndrome |
|
Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Atresia of the external auditory c... |
ORPHA:79500 |
| Crimean-Congo Hemorrhagic Fever |
|
Orchitis, Vertigo, Adrenal insufficiency, Fasciculations, Inappropriate antidiuretic hormone secr... |
ORPHA:99827 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Right unicoronal synostosis, Hypospadias, Urinary incontinence, Aga... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, EEG with generalized slow activity, Hypospadias, Urinary incontinen... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Right unicoronal synostosis, Hypospadias, Urinary incontinence, Aga... |
ORPHA:261552 |
| Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Hearing impairment |
OMIM:606170 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Unilateral external ear deformity, Ectopic kidney, ... |
OMIM:164210 |
| Myoclonic Epilepsy Of Lafora |
|
Myoclonus, Apraxia |
OMIM:254780 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Myoclonus, Tetraplegia |
OMIM:618278 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:616682 |
| Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Pallister-Killian Syndrome |
|
Hypospadias, Posteriorly rotated ears, Renal cyst, Stillbirth, Low-set ears, Macrotia, Renal dysp... |
OMIM:601803 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Optic atrophy, Myoclonus |
OMIM:253280 |
| Pmm2-Cdg |
|
Osteopenia, Proteinuria, Abnormal pinna morphology, Osteoporosis, Nephrotic syndrome, Multiple re... |
ORPHA:79318 |
