| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... |
OMIM:618013 |
| Deafness, Autosomal Dominant 87 |
|
Hearing impairment, Enlarged vestibular aqueduct, 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, Autosomal Dominant 75 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology |
OMIM:618778 |
| 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 |
|
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... |
ORPHA:231720 |
| Deafness, Autosomal Dominant 44 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:620280 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... |
OMIM:617610 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... |
OMIM:619274 |
| Deafness, Autosomal Dominant 77 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... |
ORPHA:300385 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... |
ORPHA:453533 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... |
ORPHA:100973 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior hypopituitari... |
OMIM:221750 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Fasciculations, Sensorineural hearing impairment, Spasticity, Low-set ears, Growth delay, Ankle c... |
OMIM:620323 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears |
ORPHA:436151 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608631 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... |
OMIM:611584 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... |
OMIM:618157 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Delayed puberty, Small pituitary gland, Sensorineural hearing impairment, Cryptorchidism, Hypogon... |
OMIM:612702 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Progressive hearing impairment, Anterior pituitary hypoplasia, Cent... |
OMIM:616113 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Autism, Susceptibility To, X-Linked 3 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:300425 |
| Pendred Syndrome |
|
Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot... |
ORPHA:705 |
| Autism |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:607373 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Myoclonus, Intention t... |
ORPHA:2589 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... |
ORPHA:95434 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior pituitary hyp... |
OMIM:173100 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting |
OMIM:300624 |
| Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Oculomotor apraxia,... |
OMIM:619476 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Delayed puberty, Small pituitary gland, Upper motor neuron dysfunction, Short stature, Central ad... |
OMIM:612079 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Ataxia, Myoclonus |
OMIM:159800 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Meningioma |
|
Decreased circulating cortisol level, Ataxia, Abnormal hypothalamus physiology, Focal T2 hypointe... |
ORPHA:2495 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Focal T2 hyperintense thalamic lesion, Hearing impairment, Growth delay, Rigidity,... |
OMIM:619057 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Panhypophysitis |
|
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Orthostatic hypotension, Redu... |
ORPHA:95513 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly, Low-set ears, Epiphyseal stippling |
OMIM:614859 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... |
OMIM:609425 |
| Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... |
ORPHA:95512 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... |
OMIM:620303 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased response to growth hormone... |
OMIM:618160 |
| Deafness, X-Linked 2 |
|
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... |
OMIM:304400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media |
OMIM:301076 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... |
OMIM:619902 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Spastic gait, Babinski sign, Hoffmann sign, Lower limb spasticity, Fasciculations, Spasticity, An... |
OMIM:615681 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vertigo, Abnormal head movements |
ORPHA:71518 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Vertigo, Abnormal pinna morphology, Severe sensorineural hearing impairmen... |
OMIM:614195 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Pendred Syndrome |
|
Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ... |
OMIM:274600 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Self-injurious behavior, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
| Spinocerebellar Ataxia Type 37 |
|
Truncal ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel... |
ORPHA:363710 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Spastic tetraplegia, Small pituitary gland |
OMIM:617395 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... |
OMIM:602588 |
| Cog2-Cdg |
|
Spastic tetraplegia, Small pituitary gland |
ORPHA:435934 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... |
ORPHA:98810 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... |
OMIM:263200 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... |
OMIM:613038 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... |
OMIM:300614 |
| Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Optic nerve hypoplasia... |
OMIM:182230 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Low-set ears, Renal cyst, Neonatal death |
OMIM:614870 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Craniopharyngioma |
|
Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal g... |
ORPHA:54595 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls |
OMIM:616921 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Ane Syndrome |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... |
ORPHA:157954 |
| Hydranencephaly |
|
Postnatal growth retardation, Optic nerve hypoplasia, Opisthotonus, Dysgenesis of the thalamus, I... |
ORPHA:2177 |
| Primary Dystonia, Dyt13 Type |
|
Jerky head movements, Motor stereotypy |
ORPHA:98807 |
| Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... |
ORPHA:90646 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus |
OMIM:614937 |
| Opticocochleodentate Degeneration |
|
Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism, Short stature |
OMIM:275120 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased response to growth hormone stimulation test, Oculomotor apraxia, Anterior pituitary hyp... |
ORPHA:67045 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Noonan Syndrome |
|
Postnatal growth retardation, Low-set, posteriorly rotated ears, Sensorineural hearing impairment... |
ORPHA:648 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Renal cyst, Renal agenesis, Hearing impairment, Renal dysplasia, Stage 5 ... |
OMIM:615993 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
| 7Q31 Microdeletion Syndrome |
|
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Hyperactivity, Low-se... |
ORPHA:251061 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Babinski sign, Hypertonia, Distal sensory impairment, Impaired distal proprioception, Fasciculati... |
OMIM:616688 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal burst... |
OMIM:618718 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Chromosome Xq21 Deletion Syndrome |
|
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... |
OMIM:303110 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608636 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus |
ORPHA:308 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... |
OMIM:620651 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Agitation, Motor stereotypy, Aggressive behavior |
OMIM:617171 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Chorea, Tremor, Ataxia |
OMIM:618425 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
| Combined Saposin Deficiency |
|
Optic atrophy, Babinski sign, Hyperkinetic movements, Fasciculations, Myoclonus |
OMIM:611721 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:620270 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231169 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia, Hyperkinetic movements |
ORPHA:397933 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Atax... |
OMIM:607317 |
| Spinocerebellar Ataxia 20 |
|
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor |
OMIM:608687 |
| Episodic Ataxia Type 4 |
|
Vertigo, Abnormal head movements |
ORPHA:79136 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Sensorineural hearing impairment, Nonprogressive cerebellar ataxia, Myoclonus, ... |
ORPHA:3327 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica |
OMIM:617270 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Sensorineural hearing impairment, Optic nerve hypoplasia, ... |
ORPHA:3157 |
| Ziegler-Huang Syndrome |
|
Anterior pituitary hypoplasia, Growth delay, Elevated circulating follicle stimulating hormone le... |
OMIM:620501 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Mixed hearing impairment, Unilatera... |
OMIM:113650 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Cochlear degeneration, Tinnitus, Vertigo |
OMIM:601369 |
| Developmental And Epileptic Encephalopathy 37 |
|
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Rigidity, Myoclonus, Choreoathetosis |
OMIM:616981 |
| Pituicytoma |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:251623 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior |
OMIM:300983 |
| Hsd10 Disease |
|
Optic atrophy, Postnatal growth retardation, Tremor, Hearing impairment, Rigidity, Ataxia, Myoclo... |
ORPHA:391417 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Urinary bladder sphincter ... |
ORPHA:320401 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations, Paresthesia |
ORPHA:85162 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
| Congenital Disorder Of Glycosylation, Type In |
|
Sensorineural hearing impairment, Spasticity, Short stature, Ataxia, Myoclonus |
OMIM:612015 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618709 |
| Sandhoff Disease, Adult Form |
|
Fasciculations, Spasticity, Tremor, Gait ataxia |
ORPHA:309169 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Segawa Syndrome, Autosomal Recessive |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... |
OMIM:605407 |
| Autism, Susceptibility To, X-Linked 2 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:300495 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Microtia, Low-set ears, Abnorm... |
ORPHA:1988 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus |
OMIM:618876 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Sensorineural hearing impairment, Optic nerve hypoplasia, Microtia, Stenos... |
ORPHA:93932 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Sheehan Syndrome |
|
Central diabetes insipidus, Breast hypoplasia, Orthostatic hypotension, Reduced circulating prola... |
ORPHA:91355 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... |
OMIM:613670 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:618497 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Nephroblastomatosis, Absent in utero ossificat... |
OMIM:608022 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Low-set ears, Decreased skull ossification, Posteriorly rotated ears... |
OMIM:263210 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Ataxia, Myoclonus, Goiter, Slurred speech |
OMIM:274240 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small pituitary gland, Impaired temperature sensation, Central hypothyroidism... |
ORPHA:398079 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Postnatal growth retardation, Decreased response to growth hormone stimulation tes... |
ORPHA:1435 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperkinetic movements, Tremor, Decreased ... |
ORPHA:457240 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus |
ORPHA:401901 |
| Spinocerebellar Ataxia 50 |
|
Apraxia, Chorea, Head tremor, Hearing impairment, Action tremor, Ataxia, Myoclonus, Postural trem... |
OMIM:620158 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... |
OMIM:301013 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Decreased nerve conduction velocity, Distal sensory impairment, Torticolli... |
OMIM:609136 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor |
OMIM:611092 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615957 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Delayed ossification of carpal bones, Nephronophthisis, Osteoporosis |
OMIM:184260 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... |
OMIM:231680 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Low-set ears, Compulsive behaviors, Recurrent hand flap... |
OMIM:620021 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cys... |
OMIM:613095 |
| Distal Deletion 10Q |
|
Low-set ears, Cochlear malformation, Attention deficit hyperactivity disorder, Congenital sensori... |
ORPHA:96148 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... |
ORPHA:79262 |
| Charge Syndrome |
|
Delayed puberty, Postnatal growth retardation, Mixed hearing impairment, Decreased response to gr... |
OMIM:214800 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Low-set ears, Spastic tetrapare... |
OMIM:618598 |
| Developmental And Epileptic Encephalopathy 11 |
|
Spastic tetraplegia, Hyperkinetic movements |
OMIM:613721 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Sensorineural hearing impairment, Microti... |
ORPHA:314588 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries |
ORPHA:90301 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... |
OMIM:262600 |
| Episodic Ataxia Type 7 |
|
Hyperkinetic movements, Vertigo, Tinnitus, Episodic ataxia |
ORPHA:209970 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Profound sensorineural hearing impairment, Self-injurious behavior, Absent internal auditory cana... |
OMIM:620469 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitarism, Hypogon... |
ORPHA:91351 |
| Full Schwannomatosis |
|
Fasciculations, Hearing impairment, Tinnitus, Hypoesthesia, Neoplasm of the anterior pituitary, P... |
ORPHA:93921 |
| Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Hypogonadism, Hypopituitarism, ... |
OMIM:615849 |
| Spinocerebellar Ataxia Type 36 |
|
Limb ataxia, Babinski sign, Fasciculations, Vertigo, Truncal ataxia, Tongue fasciculations, Head ... |
ORPHA:276198 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Sensorineural hearing impairment, Tremor, Limb myoclonus, Frequent falls, High-... |
ORPHA:2590 |
| Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Spasticity, Impaired distal vibration ... |
OMIM:605259 |
| Prader-Willi Syndrome |
|
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... |
ORPHA:739 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... |
OMIM:611302 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small pituitary gland, Impaired temperature sensation, Central hypothyroidism... |
ORPHA:398069 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Myoclonus, Frequent falls, Lower lim... |
ORPHA:254343 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Dysphagia, Motor stereotypy |
OMIM:617862 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... |
OMIM:615926 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations, Tremor |
OMIM:182980 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria |
OMIM:613728 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hepatomegaly, Low-set ears, Splenomegaly |
OMIM:608776 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Hearing impairment, Choreoathetosis, Myoclonus |
OMIM:609056 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus |
OMIM:314250 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... |
OMIM:620292 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Enlarged kidney, Hepatomegaly, Hepatic cysts, Cystic renal dysplasia |
OMIM:615415 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior |
OMIM:619150 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia |
OMIM:183050 |
| Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Low-set ears, Hearing impairment, Urethral valv... |
ORPHA:261290 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis |
OMIM:125370 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... |
OMIM:614104 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus, Paresthesia |
OMIM:102300 |
| Rhyns Syndrome |
|
Osteopenia, Hearing impairment, Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
| Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Myoclonus |
OMIM:618285 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... |
OMIM:608836 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensation, Abnormal sens... |
ORPHA:276435 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Dysdiadochok... |
ORPHA:254881 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:612437 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Frequent falls, Ataxia, Myoclonus, Choreoathetosis, Progressive sensorineural hearing impairment |
OMIM:301020 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, ... |
ORPHA:91350 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Tremor, Hearing impairment, Myoclonus, Abnormal pyramidal sign |
ORPHA:139485 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy |
OMIM:617830 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Babinski sign, Chorea, Incoordination, Poor motor coordination, Frequent falls, Paroxysmal choreo... |
OMIM:500003 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Recurrent otitis media, Decreased circulat... |
ORPHA:293978 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... |
ORPHA:98763 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe... |
ORPHA:220386 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Hypertonia, Anteri... |
OMIM:613457 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Sensorineural hearing impairment, Optic nerve hypoplasia, Hypothala... |
OMIM:206900 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Hypertonia, Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy e... |
OMIM:619092 |
| Episodic Ataxia, Type 5 |
|
Vertigo, Truncal ataxia, Episodic ataxia, Ataxia, Myoclonus |
OMIM:613855 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic cysts, Neonatal death, Ure... |
OMIM:208540 |
| Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Low-set ears, Posterior pituitary agenesis |
ORPHA:563612 |
| N-Acetylaspartate Deficiency |
|
Self-mutilation, Motor stereotypy |
OMIM:614063 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Low-set ears, Disproportionate short-limb short stature, Posteriorly rotated ears, Small pituitar... |
OMIM:619479 |
| Bdv Syndrome |
|
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... |
OMIM:619326 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Attention deficit hyperactivity di... |
OMIM:618342 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Myoclonus |
OMIM:162350 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Pituitary hypothyroidism, Spasticity |
OMIM:619983 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy |
OMIM:172700 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Baker-Gordon Syndrome |
|
Hyperkinetic movements, Athetoid cerebral palsy, Involuntary movements, Ataxia, Choreoathetosis |
OMIM:618218 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... |
ORPHA:352490 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Abnormal cranial nerve morphology, Progressive hearing impairment, Tremor, Fa... |
ORPHA:97229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Sensorineural hearing impairment, Dysmetria, Myoclonus |
OMIM:618251 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:606595 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy |
OMIM:618504 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Spastic tetraparesis, Myoclonus, Intrauterine growth retardation, Choreoathetosis |
OMIM:617065 |
| Glut1 Deficiency Syndrome 1 |
|
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis |
OMIM:606777 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... |
ORPHA:71277 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615362 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy |
OMIM:617820 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Truncal ataxia, Action myoclonus, Myoclonus, Choreoathetosis |
OMIM:616230 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst |
OMIM:614091 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Tremo... |
ORPHA:91347 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa... |
ORPHA:275872 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Action myoclonus, Myoclonus, Frequent falls, Gait ataxia |
OMIM:616540 |
| Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia |
OMIM:314390 |
| Foxg1 Syndrome |
|
Hyperkinetic movements, Severe postnatal growth retardation, Spasticity, Short stature, Myoclonus... |
ORPHA:561854 |
| Optic Atrophy 11 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h... |
OMIM:617302 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
| Spinocerebellar Ataxia 36 |
|
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Truncal ataxia, Tongue fasciculations, In... |
OMIM:614153 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis |
OMIM:615924 |
| Narp Syndrome |
|
Babinski sign, Myoclonic spasms, Hearing impairment, Short stature, Ataxia, Progressive gait atax... |
ORPHA:644 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... |
ORPHA:50815 |
| Ataxia-Telangiectasia-Like Disorder |
|
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Hypergonadotropic hy... |
ORPHA:251347 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98754 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... |
OMIM:617695 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98793 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:95494 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... |
ORPHA:397946 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177904 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Abnormal pinna morphology, Ethylmal... |
ORPHA:26791 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177901 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... |
ORPHA:157 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Hepatomegaly, Polycystic kidney dysplasia, Abnormal helix morphology, Amin... |
OMIM:214110 |
| 14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha... |
ORPHA:264200 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndr... |
OMIM:617303 |
| Spinocerebellar Ataxia 19 |
|
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... |
OMIM:607346 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Truncal ataxia, Episodic ataxia, Paroxysmal vertigo, Morning myoclonic jerks, Myoclonus |
OMIM:607682 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... |
OMIM:613986 |
| Microtriplication 11Q24.1 |
|
Hyperkinetic movements, Attached earlobe, Hearing impairment, Speech apraxia, Short stature, Post... |
ORPHA:289522 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
| Smith-Magenis Syndrome |
|
Abnormal middle ear morphology, Head-banging, Hyperactivity, Self hugging, Hearing impairment, Mo... |
OMIM:182290 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Cr... |
ORPHA:251004 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Hyperkinetic movements, Sensorineural hearing impairment, Spasticity, Tremor, Short stature, Cryp... |
OMIM:300957 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:613608 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Polycystic kidney dysplasia, Sensorineural hearing impairment, Low-set ... |
OMIM:610199 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... |
ORPHA:275864 |
| Caribbean Parkinsonism |
|
Bradykinesia, Orthostatic hypotension, Apraxia, Myoclonus, Abnormal autonomic nervous system phys... |
ORPHA:97355 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Growth delay, Ataxia, Parkinso... |
OMIM:619738 |
| Spinocerebellar Ataxia 17 |
|
Limb ataxia, Bradykinesia, Apraxia, Chorea, Positive Romberg sign, Gait ataxia, Intention tremor,... |
OMIM:607136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Short stature, Ataxia, Myoclonus, Spastic diplegia |
OMIM:619065 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Impaired pain sensation, Anterior pituitar... |
OMIM:619004 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Fasciculations, Chorea, Gait ataxia, Parkinsonism, Postural tremor... |
ORPHA:98756 |
| Renal Coloboma Syndrome |
|
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hearing impairment, R... |
ORPHA:1475 |
| Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Sensorineural hearing impairment, Short stature, Elevated circulati... |
OMIM:608747 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C... |
ORPHA:13 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Neonatal death, Optic disc pallor |
OMIM:613730 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Spasticity, Hyperkinetic movements, Myoclonus |
OMIM:614254 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating... |
ORPHA:2235 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Hepatomegaly, Hypospadias, Epiphyseal stippling, Polycystic... |
OMIM:614866 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Abnormal pyr... |
ORPHA:352596 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Impaired proprioception, Hoffmann sign, Impaired vibration sensatio... |
OMIM:615491 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Adrenal hypo... |
OMIM:614732 |
| Apert Syndrome |
|
Optic atrophy, Ovarian neoplasm, Sensorineural hearing impairment, Conductive hearing impairment,... |
ORPHA:87 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... |
ORPHA:228308 |
| Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Limb ataxia, Bradykinesia, Torticollis, Impaired distal vibration sensation, Titub... |
ORPHA:98768 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Hyperactivity, Low-set ears, Impulsivity, Self-mutilation, Paroxysmal bursts of laughter |
OMIM:620445 |
| Huntington Disease-Like 1 |
|
Jerky head movements, Abnormal head movements, Restlessness |
ORPHA:157941 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Babinski sign, Apraxia, Myoclonus |
OMIM:618193 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Hoffmann sign, Babinski sign, Fasciculations |
OMIM:620402 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Abnormal pinna morphology, Low-set ears, Craniosynostosis, Cystic ... |
OMIM:200995 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements |
OMIM:617493 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior |
ORPHA:391307 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Abnormality of extrapyramidal motor function, Ataxia, Myoclonus |
OMIM:204300 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ... |
ORPHA:225154 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... |
OMIM:617808 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia |
ORPHA:35125 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb ataxia, Bradykinesia, Abnormal nerve conduction velocity, Torticollis, Gait ataxia, Limb myo... |
OMIM:619862 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypertonia, Decreased circulating follicle stimulating hormone concentration, De... |
OMIM:619761 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Protruding ear, Multicystic kidney dysplasia |
ORPHA:3270 |
| Xq28 (MECP2) duplication |
|
Macrotia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
| Bor Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of the middle ear... |
ORPHA:107 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses |
OMIM:617519 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior |
OMIM:600795 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Limb tremor, Hypertonia, Myoclonus |
OMIM:300699 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:618587 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Kallmann Syndrome |
|
Delayed puberty, Breast hypoplasia, Anterior hypopituitarism, Paraplegia, Sensorineural hearing i... |
ORPHA:478 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Agitation, Hyperactivity, Macrotia, Restlessness, Aggressive behavior |
OMIM:300558 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Optic atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Low-set ears, Bilateral sensori... |
OMIM:620089 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased compound muscle action potential amplitude, Fasciculations, Impaired distal tactile sen... |
OMIM:600882 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts, Osteol... |
ORPHA:464329 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Low-set ear... |
OMIM:618188 |
| Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neonatal death, Diffuse ... |
OMIM:194080 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Prolonged somatosensory evoked potentials, Myoclonus |
OMIM:608105 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Limb tremor, Ataxia, Myoclonus, Clumsiness, Dysmetria |
OMIM:256731 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... |
OMIM:600430 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Vertigo, Spasticity, Hearing impairm... |
ORPHA:79279 |
| Christianson Syndrome |
|
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy |
ORPHA:85278 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
| Developmental And Epileptic Encephalopathy 6B |
|
Hyperkinetic movements, Chorea, Ataxia, Myoclonus, Choreoathetosis |
OMIM:619317 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hearing impairment... |
OMIM:606232 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, C... |
OMIM:618841 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations, Decreased motor nerve conduction velocity |
OMIM:615575 |
| Giant Axonal Neuropathy |
|
Babinski sign, Distal sensory impairment, Spasticity, Abnormal pituitary gland morphology, Facial... |
ORPHA:643 |
| Arima Syndrome |
|
Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, ... |
OMIM:243910 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615338 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232220 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... |
ORPHA:449291 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Choreoathetosis, Tremor, Myoclonus |
OMIM:261630 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Hearing impairment, Macrotia, Motor stereotypy |
OMIM:619877 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations, Neuromyotonia, Distal sensory impairment |
OMIM:137200 |
| Dystonia 23 |
|
Myoclonus, Torticollis, Head tremor |
OMIM:614860 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Disinhibition, Dysphagia, Motor stereotypy |
OMIM:612069 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Spasticity, Ataxia, Abnormal pyramidal sign, Palatal tremor |
ORPHA:363717 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Hypospadias, Renal cyst |
OMIM:231060 |
| Spinocerebellar Ataxia 1 |
|
Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Impaired proprioception,... |
OMIM:164400 |
| Spinocerebellar Ataxia 2 |
|
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... |
OMIM:183090 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... |
OMIM:613135 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Coffin-Siris Syndrome 7 |
|
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... |
OMIM:618027 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Low-set ears, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal ... |
OMIM:236500 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia |
ORPHA:306511 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Erratic myoclonus, Myoclonus |
OMIM:619971 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior |
ORPHA:3306 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:617829 |
| Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... |
ORPHA:454887 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Myoclonus |
OMIM:619191 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus |
ORPHA:86814 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Progressive cerebellar ataxia, Spastic dysarthria, Impaired vibration sensation in... |
ORPHA:95433 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Tremor, Myoclonus |
OMIM:615400 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hearing impairment, Hepatosplenomegaly, Micropenis, O... |
ORPHA:168569 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:619028 |
| Alazami Syndrome |
|
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... |
ORPHA:319671 |
| Amyotrophic Lateral Sclerosis 28 |
|
Chaddock reflex, Babinski sign, Fasciculations |
OMIM:620452 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Impaired distal proprioception, Positive Romberg sign, Ab... |
ORPHA:70595 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, Craniosynostosis, Polycystic kidney dysplasia, Sensorineural hearing i... |
DECIPHER:81 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Ataxia, Myoclonus, Cl... |
ORPHA:79263 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Progressive cerebellar ataxia, Progressive truncal ataxia, Myoclonus, Limb myoclon... |
ORPHA:263516 |
| Autism, Susceptibility To, 3 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608049 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Developmental And Epileptic Encephalopathy 23 |
|
Abnormal pinna morphology, Myoclonus |
OMIM:615859 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Motor stereotypy |
OMIM:613443 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... |
ORPHA:726 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,... |
OMIM:606703 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... |
ORPHA:101 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... |
OMIM:612736 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:314632 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy |
ORPHA:411986 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Hypospadias, Polycystic kidney dyspl... |
OMIM:102500 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Resting tremor, Chorea, Dilated third ventricle, Cogwheel rigidity, Intention tremo... |
OMIM:619725 |
| Ogden Syndrome |
|
Macrotia, Low-set ears, Abnormal head movements |
ORPHA:276432 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Multiple renal cysts |
ORPHA:66637 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Hepatomegaly, Renal tubular acidosis, Renal cyst, Hearing impairment, Renal hypoplasi... |
OMIM:614922 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Spasticity, Myoclonus |
OMIM:616139 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Hyperkinetic movements, Spasticity, Low-set ears, Hearing impairment, Hypoplasia o... |
OMIM:616420 |
| Meckel Syndrome 14 |
|
Decreased calvarial ossification, Polycystic kidney dysplasia, Low-set ears |
OMIM:619879 |
| Non-Functioning Pituitary Adenoma |
|
Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency,... |
ORPHA:91349 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Fasciculations, Truncal ataxia, Intenti... |
ORPHA:284289 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Jerky head movements, Punding |
ORPHA:64280 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus |
OMIM:619651 |
| Epilepsy With Eyelid Myoclonia |
|
Abnormal head movements |
ORPHA:139431 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... |
ORPHA:2237 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Optic atrophy, Babinski sign, Hypertonia, Spastic dysarthria, Progressive spasticity, Ataxia, Myo... |
ORPHA:401866 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst |
OMIM:613390 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Retrocollis, Spasticity, Tremor, Short stature, Myoclonus |
OMIM:617284 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... |
OMIM:618430 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Chorea, Gait ataxia, Rigidity, Ataxia, Myoclonus |
ORPHA:248111 |
| Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Sensorineural hearing impairment, Clumsine... |
OMIM:617854 |
| Continuous Spikes And Waves During Sleep |
|
Clumsiness, Hyperkinetic movements, Speech apraxia |
ORPHA:725 |
| Acromelic Frontonasal Dysplasia |
|
Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism |
ORPHA:1827 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Hyperkinetic movements, Sensorineural hearing impairment, Spasticity, Facial diplegia, Athetosis,... |
OMIM:612073 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Abnormal pinna morphology, Short stature, Intrauterine gro... |
ORPHA:75389 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease |
OMIM:617056 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Myoclonus |
OMIM:619303 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Machado-Joseph Disease |
|
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Facial-lingual fascicula... |
OMIM:109150 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Myoclonus, Degeneration of anterior ... |
OMIM:159950 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... |
OMIM:617044 |
| Lennox-Gastaut Syndrome |
|
Vertigo, Myoclonus |
ORPHA:2382 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:603860 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... |
ORPHA:101150 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hyperkinetic movements, Spastic tetraparesis, Hearing impairment, Poor coordinatio... |
ORPHA:391428 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior |
OMIM:301029 |
| Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy |
OMIM:617393 |
| Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner... |
ORPHA:98755 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Myoclonus, Ab... |
ORPHA:363400 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Fasciculations, Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron m... |
OMIM:602099 |
| Say Syndrome |
|
Macrotia, Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... |
OMIM:617751 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Fasciculations, Tongue fasciculations, Spasticity, Low-set ears, Intrauterine growth retardation |
OMIM:618065 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy |
OMIM:618917 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Protruding ear, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Babinski sign, Truncal ataxia, Spasticity, Short stature, Ataxia, Myoclonus |
OMIM:252011 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Limb ataxia, Impaired proprioception, Decreased nerve conduction velocity, Impaired pain sensatio... |
ORPHA:101085 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... |
OMIM:130650 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Babinski sign, Hypertonia, Sensorineural hearing impairment, Spasticity, Cerebral palsy, Clonus, ... |
OMIM:619847 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Anterior pituitary hypoplasia, Short stature, Macrotia, Protruding ear, Crypto... |
ORPHA:464306 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Hearing impairment, Bruxism, Motor stereotypy |
OMIM:616351 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Fasciculations, Tongue fasciculations, Ataxia, Degeneration of anterior horn cells, ... |
OMIM:607596 |
| Crouzon Syndrome |
|
Hearing impairment, Conductive hearing impairment, Narrow internal auditory canal |
ORPHA:207 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Fasciculations, Decreased motor nerve conduction velocity, Distal sensory impairment, Impaired di... |
OMIM:614436 |
| Gorham-Stout Disease |
|
Hearing impairment, Abnormality of the internal auditory canal |
ORPHA:73 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic pa... |
OMIM:614487 |
| 4Q21 Microdeletion Syndrome |
|
Hearing impairment, Self-injurious behavior, Low-set ears, Motor stereotypy |
ORPHA:238750 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Charge Syndrome |
|
Optic atrophy, Delayed puberty, Abnormality of the adrenal glands, Postnatal growth retardation, ... |
ORPHA:138 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Choreoathetosis |
OMIM:233910 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Optic atrophy, Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Low-set ears, C... |
OMIM:614969 |
| Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Papillorenal Syndrome |
|
Hematuria, Horseshoe kidney, Sensorineural hearing impairment, Vesicoureteral reflux, Mild protei... |
OMIM:120330 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Stenosis of the external auditory canal, Abnormal pinna morphology, Low-set ears, ... |
OMIM:123450 |
| 22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... |
ORPHA:1727 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive behavior |
OMIM:618914 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Lower limb spasticity, Fasciculations, Tetraparesis, Spasticity, Ankle clonus, Abn... |
OMIM:613954 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Hypertonia, Severe postnatal growth retardation, Abnormal pinna morphology, Spasti... |
ORPHA:3078 |
| Alg9-Cdg |
|
Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Low-set, posteriorly rotated ears, Low... |
ORPHA:79328 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
ORPHA:731 |
| Tay-Sachs Disease |
|
Optic atrophy, Abnormal thalamic MRI signal intensity, Ankle clonus, Fasciculations, Incoordinati... |
ORPHA:845 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sensorineural hearing impairment, Anterior pituitary hypoplasia, Short stature, Macrotia, Intraut... |
OMIM:151050 |
| Sandhoff Disease, Juvenile Form |
|
Abnormality of extrapyramidal motor function, Incoordination, Fasciculations, Ataxia, Abnormal py... |
ORPHA:309162 |
| Inherited Creutzfeldt-Jakob Disease |
|
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... |
ORPHA:282166 |
| Lopes-Maciel-Rodan Syndrome |
|
Agitation, Bruxism, Dysphagia, Motor stereotypy |
OMIM:617435 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Low-set ears, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Hearing impairment, Myoclonus, Tetraparesis, Hydrocele testis |
OMIM:618972 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spinocerebellar Ataxia 34 |
|
Limb ataxia, Fasciculations, Dysdiadochokinesis, Spasticity, Gait ataxia, Intention tremor, Ataxi... |
OMIM:133190 |
| Developmental And Epileptic Encephalopathy 64 |
|
Macrotia, Bruxism, Motor stereotypy, Self-injurious behavior |
OMIM:618004 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:616030 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus |
OMIM:204200 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy protei... |
ORPHA:505248 |
| Developmental And Epileptic Encephalopathy 109 |
|
Intrauterine growth retardation, Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Osteopor... |
ORPHA:79259 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Decreased circulating luteinizing hormone level, Testicular microlithiasis, Andr... |
OMIM:228300 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Tremor, Ataxia, Myoclonus |
OMIM:612016 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tongue thrusting, Recurrent hand flapping, Impulsivity, Hearing impairment, Motor stereotypy, Att... |
OMIM:619580 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Distal sensory impairment, Fasciculations, Tetraplegia, Degeneration of anterior horn cells, Hand... |
OMIM:604484 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... |
OMIM:617796 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Microtia, Ovarian serous cystadenoma |
ORPHA:276280 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Limb hypertonia, Myoclonus |
ORPHA:324588 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Optic nerve h... |
OMIM:610829 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Low-set ears, Renal cyst, U... |
OMIM:615398 |
| Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Low-set ears, Renal fibrosis, Hydronephrosis, Multicystic kid... |
OMIM:618161 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Short stature, Rigidit... |
ORPHA:442835 |
| Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Microtia, Vesicoureteral reflux, Prominent ear helix... |
ORPHA:96149 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Intention tre... |
OMIM:618356 |
| Amyotrophic Lateral Sclerosis 1 |
|
Fasciculations, Spasticity, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, P... |
OMIM:105400 |
| Myoclonus, Intractable, Neonatal |
|
Chorea, Athetosis, Optic disc pallor, Myoclonus |
OMIM:617235 |
| Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Enlarged kidney, Hepatomegaly, Recurrent otitis media, Mucopolysacchariduria, Splenom... |
OMIM:252500 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Myoclonus |
OMIM:618357 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Apraxia, Sens... |
ORPHA:209905 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park... |
OMIM:606693 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Babinski sign, Hypertonia, Distal sensory impairment, Tremor, Gait ataxia, Intenti... |
OMIM:616505 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Tremor, Ataxia, Myoclonus |
OMIM:616494 |
| Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydroneph... |
OMIM:236700 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Low-set ears, Hearing impairment, Ovarian cyst, Proteinuria, Hepatic... |
OMIM:311200 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Chorea, Spasticity, Athetosis, Blepharospasm... |
OMIM:617282 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Synotia, Low-set, posteriorly rotated ears, Narrow internal auditory canal |
ORPHA:990 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... |
OMIM:610706 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly |
ORPHA:53035 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter |
ORPHA:228402 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spastic dysarthria, Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Ataxia, Myoclonus, Spasti... |
ORPHA:313772 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst |
OMIM:614815 |
| Leigh Syndrome |
|
Optic atrophy, Abnormal thalamic MRI signal intensity, Hyperkinetic movements, Abnormality of ext... |
ORPHA:506 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy |
OMIM:618205 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... |
ORPHA:500159 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Motor stereotypy |
OMIM:617802 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hearing impairment, Type I diabetes mellitus, Ataxia, Myoclonus |
OMIM:560000 |
| Tick-Borne Encephalitis |
|
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morpho... |
ORPHA:297 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Protruding ear, Sensorineural hearing impairment, Macrotia, Bifid ureter, Nephro... |
ORPHA:500095 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Aplasia of the bladder, Low-set ears, Abnormality of the ureter, Ren... |
OMIM:200980 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:619755 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Motor stereotypy |
ORPHA:79155 |
| Pseudohypoparathyroidism Type 2 |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Myoclonic spasms, Pares... |
ORPHA:94090 |
| Amyotrophic Lateral Sclerosis 18 |
|
Fasciculations, Spasticity, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... |
OMIM:618825 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination |
ORPHA:397612 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity diso... |
OMIM:617061 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Optic atrophy, Hypertonia, Spasticity, Short stature, Opisthotonus, Myoclonus, Large earlobe, Spa... |
OMIM:615851 |
| D-Glyceric Aciduria |
|
Hearing impairment, Chorea, Spasticity, Myoclonus |
ORPHA:941 |
| Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... |
OMIM:613174 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, Stereotypical body... |
OMIM:300912 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Spasticity, Myoclonus |
OMIM:225753 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Optic atrophy, Aganglionic megacolon, Hypospadias, Polycystic kidney dyspla... |
ORPHA:567 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Polycystic kidney dysplasia, Micropenis |
OMIM:616546 |
| Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... |
ORPHA:805 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Motor stereotypy |
OMIM:617807 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Lower limb spasticity, Chorea, Upper limb spasticity, Myoclonus, C... |
ORPHA:485350 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Central diabetes insipidus, Diabetes insipidus, Sensorineural hearing impairment, Nephrogenic dia... |
OMIM:620167 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short statu... |
ORPHA:177907 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Oculomotor apraxia, Lower limb spasticity, Apraxia, Spastic tetraparesis, Hearing ... |
ORPHA:139396 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Fasciculations, Tongue fasciculations, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Meacham Syndrome |
|
Stillbirth, Enlarged kidney, Neonatal death, Horseshoe kidney |
OMIM:608978 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Hearing impairment, Intrau... |
OMIM:620327 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
| Adenylosuccinase Deficiency |
|
Spasticity, Low-set ears, Gait ataxia, Growth delay, Opisthotonus, Myoclonus, Hemiplegia |
OMIM:103050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy |
OMIM:300486 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Optic atrophy, Rigidity, Athetosis, Myoclonus |
OMIM:618241 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Fasciculations, Babinski sign, Lower limb spasticity |
OMIM:615290 |
| Nipah Virus Disease |
|
Vertigo, Tremor, Myoclonus |
ORPHA:99825 |
| Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Optic nerve hypoplasia, Renal cyst |
OMIM:615583 |
| Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
| Coach Syndrome 1 |
|
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Renal cyst, Splenomegaly, Stage 5 chro... |
OMIM:216360 |
| Sialidosis Type 1 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Short stature, Ata... |
ORPHA:812 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... |
OMIM:619695 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney, EEG with burst suppression |
OMIM:261740 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:10 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Abnorma... |
ORPHA:116 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy |
OMIM:617600 |
| Gangliocytoma |
|
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... |
ORPHA:251937 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent otitis media, Limb hypertonia, Sensorineural hearing impairment, Anterior pituitary hyp... |
OMIM:619841 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... |
OMIM:618877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Repetitive compulsive behavior, Bruxism |
OMIM:300260 |
| Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Splenomegaly, Hepatomegaly, Renal hypoplasia |
ORPHA:84064 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hyperkinetic movements, Rhizomelia, Spasticity, Tremor, Growth delay, Ataxia, Opisthotonus, Myocl... |
OMIM:616271 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Testicular atrophy |
OMIM:313200 |
| Pediatric-Onset Graves Disease |
|
Increased circulating T4 concentration, Increased circulating free T3, Hyperkinetic movements, Tr... |
ORPHA:525731 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Attention deficit h... |
OMIM:619312 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Abnormal antihelix morphology, Motor stereotypy |
ORPHA:261144 |
| Sialuria |
|
Hyperkinetic movements, Low-set ears, Cholelithiasis |
ORPHA:3166 |
| Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Short stature, Myoclonus, Dysmetria, Slurred speech |
OMIM:256550 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... |
ORPHA:313892 |
| Transketolase Deficiency |
|
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... |
ORPHA:488618 |
| Neuroferritinopathy |
|
Bradykinesia, Abnormal thalamic MRI signal intensity, Babinski sign, T2 hypointense thalamus, Res... |
ORPHA:157846 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Babinski sign, Spasticity, Short stature, Macrotia, Uplifted earlobe, Pain insensitivity, Myoclon... |
ORPHA:364028 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Macrotia, Hyperkinetic movements, Ataxia, Truncal ataxia |
OMIM:300243 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Lower limb spasticity, Spasticity, Low-set ears, Hearing impairment, Ataxia, Myocl... |
ORPHA:93399 |
| Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... |
ORPHA:94089 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... |
OMIM:619103 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Upper motor neuron dysfu... |
ORPHA:204 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Tremor, Impaired distal ... |
OMIM:619574 |
| Atypical Juvenile Parkinsonism |
|
Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity... |
ORPHA:391411 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior |
OMIM:616393 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Chronic otitis media, Decreased response to growth hormone stimulation test, Recurrent otitis med... |
OMIM:619503 |
| Ogden Syndrome |
|
Enlarged kidney, Recurrent otitis media, Protruding ear, Polycystic kidney dysplasia, Low-set ear... |
OMIM:300855 |
| Floating-Harbor Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Low-set ears, Cochlear malformation, Renal cyst, Renal ... |
ORPHA:2044 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy |
ORPHA:280763 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614862 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... |
OMIM:619293 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal pinna morphology, Absent earlobe, Craniosynostosis |
ORPHA:3103 |
| Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614897 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Progressive hearing impairment, Disinhibition, Attention deficit hyperactivity dis... |
ORPHA:43 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon, Low-set ears |
ORPHA:2570 |
| Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Hepatomegaly, Epiphyseal stippling, Hyperoxaluria, Sensorineural hearing impairmen... |
OMIM:601539 |
| Gm1-Gangliosidosis, Type Iii |
|
Short stature, Ataxia, Slurred speech, Myoclonus |
OMIM:230650 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Low-set ears, Motor stereotypy, Overfriendliness |
OMIM:616579 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior |
OMIM:619435 |
| Prolactinoma |
|
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Vertigo, Pit... |
ORPHA:2965 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Elevated circulating luteinizin... |
OMIM:229070 |
| Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Enhancement of the C-reflex, Tremor, Blepharospasm, Ataxia, Giant somatosensory evoked potentials... |
OMIM:607876 |
| Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of pattern visual evoked potentials, Low-set ears, Renal cyst, Macrotia, Craniosynost... |
ORPHA:166035 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
| X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... |
ORPHA:53351 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Babinski sign, Oculomotor apraxia, Limb hypertonia, Microtia, Spasticity, Low-set ears, Intention... |
OMIM:618076 |
| Gaucher Disease, Type Iii |
|
Short stature, Spastic paraparesis, Ataxia, Myoclonus |
OMIM:231000 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
| 9P13 Microdeletion Syndrome |
|
Recurrent otitis media, Low-set ears, Precocious puberty, Short stature, Myoclonus, Abnormality o... |
ORPHA:324313 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Huntington Disease |
|
Bradykinesia, Babinski sign, Chorea, Poor fine motor coordination, Involuntary movements, Clonus,... |
ORPHA:399 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Microtia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnorm... |
ORPHA:1834 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Truncal ataxia, Head titubation, Ataxia, Myoclonus, Dysmetria |
OMIM:250620 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Babinski sign, Lower limb spasticity, Fasciculations, Clumsiness, Spasticity, Upper motor neuron ... |
ORPHA:88644 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Hypertonia, Decreased thalamic volume, Spastic paraplegia, Macrotia... |
ORPHA:168577 |
| Dravet Syndrome |
|
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... |
ORPHA:33069 |
| Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Low-set ears, Abnormality of the ureter, Renal agenesis, Splenomegal... |
OMIM:249000 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Spastic tetraparesis, Low-set ears, Hearing impairment, Short stature, Myoclonus |
OMIM:614261 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Distal sensory impairment, Myoclonus |
OMIM:604218 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Delayed epiphyseal ossification, Polycystic kidney dysplasia, Microtia, Low-set ears,... |
OMIM:210710 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614839 |
| Developmental And Epileptic Encephalopathy 89 |
|
Hypertonia, Hyperkinetic movements, Spasticity, Low-set ears, Neonatal death, Tetraparesis, Asymm... |
OMIM:619124 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Hypothyroidism, Progressive... |
ORPHA:445038 |
| Hereditary Hyperekplexia |
|
Hypertonia, Fasciculations, Spasticity, Rigidity, Ataxia, Myoclonus |
ORPHA:3197 |
| Caroli Syndrome |
|
Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:480520 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Low-set ears, Facial pals... |
OMIM:615873 |
| Trisomy 13 |
|
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal helix mo... |
ORPHA:3378 |
| D-Glyceric Aciduria |
|
Appendicular spasticity, Sensorineural hearing impairment, Optic nerve hypoplasia, Spasticity, Gr... |
OMIM:220120 |
| Saethre-Chotzen Syndrome |
|
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... |
ORPHA:794 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Hyperkinetic movements |
OMIM:236270 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Protruding ear, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Renal cyst |
ORPHA:2031 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Low-set ears, Bilateral sensorineural hearing im... |
OMIM:220500 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Appendicular spasticity, Low-set ears, Involuntary movements, Clonus, Opisthotonus... |
OMIM:620352 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
| Cardiospondylocarpofacial Syndrome |
|
Recurrent otitis media, Low-set ears, Fusion of middle ear ossicles, Conductive hearing impairmen... |
OMIM:157800 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypertonia, Hearing impairment, Short stature, Ataxia, Abnormality of the diencephalon |
ORPHA:2720 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Episodic ataxia, Myoclonus |
OMIM:312170 |
| Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal pituitary gland morphology, Hearing impairment, Abnormal hypothal... |
ORPHA:314621 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Optic neuropathy, Spastic paraplegia, Ataxia,... |
OMIM:620538 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Low-set ears, Nephrocalcinosis, Protru... |
ORPHA:508 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior |
OMIM:620242 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
| Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor hand-eye coordination, Poor motor coordination, Myoclonus |
ORPHA:86909 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Aggressive behavior, Microtia, Compulsive behaviors, Hearing impairment, Posteriorly rotated ears... |
OMIM:620494 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal temper tantrums, Motor stereotypy |
ORPHA:530983 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Hearing impairment, Opisthotonus, Myoclonus, Tetraparesis |
OMIM:616672 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... |
OMIM:610253 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Delayed puberty, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Intention tremor, Speec... |
ORPHA:466791 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Low-set ears, Renal agenesis, Cardiomegaly, Horseshoe kidney |
OMIM:306955 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Torticollis, Blepharospasm, Upper limb postural tremor, Myoclonus, Vocal tremor |
ORPHA:420485 |
| Gerstmann-Straussler Disease |
|
Limb ataxia, Bradykinesia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... |
OMIM:137440 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609727 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior |
OMIM:610042 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614837 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... |
OMIM:300986 |
| Zellweger Syndrome |
|
Optic atrophy, Hepatomegaly, Hypospadias, Epiphyseal stippling, Sensorineural hearing impairment,... |
ORPHA:912 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Sensorineural hearing impairment, Right hemiplegia, Tremor, Hypergonadotropic hypogonadism, Ataxi... |
OMIM:607426 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Bilateral sensorineural hearing im... |
OMIM:616364 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Fasciculations, Impaired vibration sensation in the lower limbs, Facial diplegia, Frequent falls,... |
ORPHA:521411 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy |
OMIM:615656 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst |
OMIM:615994 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Macrotia, Prominent antihelix, Motor stereotypy |
OMIM:615802 |
| Smith-Magenis Syndrome |
|
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... |
ORPHA:819 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorl... |
OMIM:212066 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... |
OMIM:174000 |
| Trisomy 10P |
|
Abnormality of the kidney, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked poten... |
ORPHA:171929 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Hepatomegaly, Dark urine, Renal cyst |
ORPHA:79303 |
| Rett Syndrome, Congenital Variant |
|
Protruding ear, Bruxism, Motor stereotypy, Tongue thrusting |
OMIM:613454 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Motor stereotypy, Abn... |
ORPHA:435638 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Intention tremor, Clonus, Short stature... |
OMIM:301310 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormality of somatosensory evoked potentials, Recurrent urinary tract ... |
ORPHA:99027 |
| 47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Low-set ears, Impulsivity |
ORPHA:8 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Multiple renal cysts, ... |
ORPHA:1318 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Spasticity, Exaggerated startle response, Myoclonus |
ORPHA:309155 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Microtia, Low-set ears, Posteriorly rotated ears, Protruding ear, Multicystic kidney dysplasia |
OMIM:618829 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hepatomegaly, Renal cyst |
OMIM:602579 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:168593 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Focal T2 hyperintense thalamic lesion, Hypertonia, Paralysis, Respiratory pa... |
ORPHA:79139 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... |
ORPHA:261197 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Chronic otitis media, Spasticity, Darwin tubercle of helix, Myoclonus |
OMIM:612949 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Decreased amplitude of sen... |
OMIM:618733 |
| Brody Disease |
|
Fasciculations, Somatic sensory dysfunction |
OMIM:601003 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Attention deficit hyperactivity disorder, Underfolded superior helices, Motor stereotypy, Aggress... |
OMIM:300352 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Myoclonus |
OMIM:221770 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... |
OMIM:619575 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Absent brainstem auditor... |
ORPHA:90321 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short stature, Hypertonia, Myoclonus |
ORPHA:289266 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Fasciculations, Upper motor neuron dysfunction, Cranial nerve c... |
ORPHA:52430 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Growth... |
ORPHA:496641 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
| Cystic Echinococcosis |
|
Hepatomegaly, Bone cyst, Renal cyst, Ovarian cyst, Hepatic cysts, Membranous nephropathy |
ORPHA:400 |
| Schindler Disease, Type I |
|
Optic atrophy, Spasticity, Myoclonus |
OMIM:609241 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Babinski sign, Impaired distal proprioception, Sensorineural hearing impairment, Positive Romberg... |
OMIM:607459 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi... |
ORPHA:2306 |
| Multifocal Motor Neuropathy |
|
Fasciculations, Motor conduction block |
ORPHA:641 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... |
ORPHA:1001 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, EEG with spike-wave complexes, Congenital megaureter, Hypercalciuria, Low-set ears, R... |
ORPHA:369837 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Spasticity, Low-set ears, Hearing impairment, Ataxia, Myoclonus, Dysmetria |
ORPHA:93400 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Braddock-Carey Syndrome 1 |
|
Macrotia, Multicystic kidney dysplasia, Posteriorly rotated ears |
OMIM:619980 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hyperkinetic movements, Chorea, Truncal ataxia, Athetosis, Tremor, Speech apraxia, Short stature,... |
OMIM:615356 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Protruding ear |
ORPHA:447997 |
| Cockayne Syndrome B |
|
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Renal insufficiency, Sensorineu... |
OMIM:133540 |
| Mepan Syndrome |
|
Optic atrophy, Chorea, Spasticity, Ataxia, Myoclonus |
ORPHA:508093 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy |
OMIM:301094 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:163921 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Microtia, Myoclonus, Intrauterine growth retardation, Cupped ear |
ORPHA:1352 |
| Houge-Janssens Syndrome 3 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy |
OMIM:618354 |
| Trisomy 20P |
|
Abnormality of the kidney, Reduced bone mineral density, Hypospadias, Low-set, posteriorly rotate... |
ORPHA:261318 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Protruding ear, Fetal megacystis, Multicystic kidney dysplasia, Low-set ears |
ORPHA:73246 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Macrotia,... |
OMIM:617281 |
| Kleefstra Syndrome |
|
Chronic otitis media, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hearin... |
ORPHA:261494 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... |
ORPHA:64744 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Hearing impairment, Appendicular spasticity, Myoclonus |
OMIM:617669 |
| Proteus Syndrome |
|
Cranial hyperostosis, Enlarged kidney, Long penis, Hyperostosis, Calvarial hyperostosis, Low-set ... |
ORPHA:744 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly rotated ears, ... |
ORPHA:468678 |
| Developmental And Epileptic Encephalopathy 66 |
|
Motor stereotypy |
OMIM:618067 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Low-set ears, Renal cyst, Cupped ear |
OMIM:615560 |
| Mogs-Cdg |
|
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... |
ORPHA:79330 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Low-set ears, Renal cyst, Macrotia, Craniosynostosis, Horseshoe kidney |
OMIM:250410 |
| Megalocornea-Intellectual Disability Syndrome |
|
Protruding ear, Sensorineural hearing impairment, Motor stereotypy |
ORPHA:2479 |
| Microcephaly, Amish Type |
|
Optic atrophy, Limb hypertonia, Myoclonus |
OMIM:607196 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Fasciculations, Babinski sign |
OMIM:619733 |
| Joubert Syndrome 14 |
|
Optic atrophy, Posteriorly rotated ears, Renal cyst, Low-set ears |
OMIM:614424 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Chorea, Athetosis, Low-set e... |
OMIM:615273 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Optic disc pallor, Myoclonus |
OMIM:618240 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypertonia, Hyperkinetic movements, Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Sp... |
ORPHA:468631 |
| Chromosome 17Q12 Deletion Syndrome |
|
Protruding ear, Unilateral renal agenesis, Recurrent urinary tract infections, Bilateral sensorin... |
OMIM:614527 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Low-set ears |
ORPHA:2165 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hearing impairment, Two carpal ossificati... |
OMIM:312870 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Low-set ears, Renal age... |
OMIM:134780 |
| Cockayne Syndrome A |
|
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Renal insufficiency, Sensorineu... |
OMIM:216400 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Fasciculations, Facial diplegia, Tremor, Frequent falls, Par... |
ORPHA:329478 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus |
OMIM:614299 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dysphagia, Motor stereotypy |
ORPHA:79264 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Oculomotor apraxia, Growth delay, Ataxia, Myoclonus,... |
ORPHA:247262 |
| Amyotrophic Lateral Sclerosis 8 |
|
Fasciculations, Abnormal pyramidal sign, Amyotrophic lateral sclerosis, Postural tremor |
OMIM:608627 |
| Alzheimer Disease 3 |
|
Babinski sign, Optic ataxia, Apraxia, Abnormality of extrapyramidal motor function, Spastic tetra... |
OMIM:607822 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Abnormal pyramidal sign, Involuntary movements, Dysmetria, Myoclonus |
OMIM:619780 |
| Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Spastic tetraparesis, Bilateral cryptorchidism, Decreased circulating... |
OMIM:607398 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:620511 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... |
ORPHA:2973 |
| Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Myoclonus |
OMIM:612899 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Low-set ears, Motor stereotypy, Aggressive behavior |
ORPHA:457279 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Neonatal death, Opisthotonus,... |
OMIM:605711 |
| 17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Hearing impairment, Multicystic kidne... |
ORPHA:261265 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Bilateral cryptorchidism, Inten... |
ORPHA:466722 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Renal agenesis, Conductive hearing ... |
ORPHA:1297 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Decreased distal sensory nerve action potential, Babinski sign, Hypertonia, Impaired tactile sens... |
ORPHA:466768 |
| Ulbright-Hodes Syndrome |
|
Polycystic kidney dysplasia, Abnormal pinna morphology, Low-set ears, Renal hypoplasia, Abnormal ... |
ORPHA:3404 |
| Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Sensorineural hearing impairment, Hearing impairment, Short stature, Diabetes mel... |
OMIM:610717 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Optic atrophy, Appendicular spasticity, Low-set ears, Exaggerated startle response, Gait ataxia, ... |
OMIM:620451 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Motor stereotypy |
ORPHA:927 |
| Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... |
ORPHA:79443 |
| Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Motor stereotypy, Aggressive behavior |
ORPHA:168491 |
| Harrod Syndrome |
|
Protruding ear, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Vacterl/Vater Association |
|
Ectopic kidney, Hypospadias, Hypoplasia of penis, Low-set, posteriorly rotated ears, Renal agenes... |
ORPHA:887 |
| Immunodeficiency 23 |
|
Cortical myoclonus, Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Myoc... |
OMIM:615816 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Macrotia, Protein... |
OMIM:212065 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microtia, Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney... |
ORPHA:3301 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Ectopic p... |
OMIM:181450 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... |
ORPHA:909 |
| Pallister-Hall Syndrome |
|
Hydroureter, Ectopic kidney, Microtia, Renal cyst, Distal urethral duplication, Atresia of the ex... |
OMIM:146510 |
| Cornelia De Lange Syndrome 1 |
|
Optic atrophy, Ectopic kidney, Hypospadias, Abnormal renal morphology, Sensorineural hearing impa... |
OMIM:122470 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Spasticity, Low-set ears, Bile duct proliferat... |
OMIM:619534 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Decreased nerve conduction velocity, Hepatomegaly, Low-set ears, Renal cyst, Hearing ... |
OMIM:261515 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Low-set ears, Renal cyst, Posteriorly rotated ears, Renal dysplasia, EEG with burst suppression |
OMIM:617260 |
| Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
| Atelosteogenesis Type I |
|
Low-set ears, Abnormal ossification involving the femoral head and neck, Absent or minimally ossi... |
ORPHA:1190 |
| Trisomy 1Q |
|
Low-set ears, Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter |
ORPHA:261344 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Chorea, Bilateral sensorineural hearing impairment, Gait ataxia, Ataxia, Myoclonus, Spastic tetra... |
OMIM:618321 |
| Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Hypospadias, Long penis, Polycystic kidney dysplasia, Abnormal pinna morphology, Abse... |
OMIM:268300 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior |
OMIM:619121 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Myoclonus, Exaggerated startle response, Clonus |
OMIM:618201 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... |
ORPHA:93111 |
| Dystonia 34, Myoclonic |
|
Hand tremor, Myoclonus, Torticollis, Head tremor |
OMIM:619724 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Hypoplasia... |
OMIM:208900 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus |
OMIM:618280 |
| Oromandibular Dystonia |
|
Hyperkinetic movements, Blepharospasm, Torticollis |
ORPHA:93958 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Low-set ears, Renal cyst, Optic disc coloboma, Renal insufficiency |
OMIM:608091 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter |
ORPHA:2869 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Low-set ears, Facial palsy, Hearing impairment, Hydronephr... |
ORPHA:261349 |
| Orofaciodigital Syndrome Type 3 |
|
Spasticity, Low-set ears, Oculomotor apraxia, Myoclonus |
ORPHA:2752 |
| Poliomyelitis |
|
Hyperkinetic movements, Fasciculations, Paraparesis, Abnormal motor nerve conduction velocity, Pa... |
ORPHA:2912 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Low-set ears, Renal cyst, Microphallus, Hearing impairment, Renal hypoplas... |
OMIM:618454 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Self-injurious behavior |
ORPHA:457351 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Low-set ears, Renal cyst, Posteriorly rotated ears, Ne... |
OMIM:257300 |
| Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
| Neutral Lipid Storage Myopathy |
|
Fasciculations, Sensorineural hearing impairment, Short stature, Diabetes mellitus, Pineal cyst |
ORPHA:98908 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:600740 |
| Melas |
|
Optic atrophy, Abnormal central motor function, Hypoparathyroidism, Sensorineural hearing impairm... |
ORPHA:550 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Abnormal pinna morphology, Low-set ears, Renal cyst, Penile hypospadias, Mi... |
ORPHA:1692 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Dysphagia, Motor stereotypy |
ORPHA:572013 |
| Meckel Syndrome, Type 6 |
|
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst |
OMIM:612284 |
| Orofaciodigital Syndrome Iii |
|
Low-set ears, Myoclonus |
OMIM:258850 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Unicoronal synostosis, Renal cyst, Renal hypoplasia, Macrotia |
OMIM:616300 |
| Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Intention ... |
ORPHA:171695 |
| Galloway-Mowat Syndrome 10 |
|
Myoclonus, Congenital hypothyroidism |
OMIM:619609 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Spasticity, Tremor, Upper limb spasticity, Posteriorly rotated ears, Ataxi... |
OMIM:619229 |
| 7Q11.23 Microduplication Syndrome |
|
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... |
ORPHA:96121 |
| Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Multicystic kidney dysplasia, Hepatosplenomegaly, Right ventricular hy... |
OMIM:267010 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:98784 |
| Sandhoff Disease |
|
Orthostatic hypotension, Impaired temperature sensation, Fasciculations, Spasticity, Upper motor ... |
OMIM:268800 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertonia, Hyperkinetic movements, Sensorineural hearing impairment, Growth delay, Myoclonus, Ch... |
ORPHA:17 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Babinski sign, Torticollis, Limb hypertonia, Athetosis, Blepharospasm, Exaggerated startle respon... |
OMIM:608643 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Ectopic anterior pituitary gland |
OMIM:620558 |
| Hyperkalemic Periodic Paralysis |
|
Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Paresthesia |
ORPHA:682 |
| Mody |
|
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst |
ORPHA:552 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... |
ORPHA:79404 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Vesicoureteral reflux, Renal cyst, Renal ... |
OMIM:618460 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619428 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Immunodeficiency 96 |
|
Recurrent otitis media, Multicystic kidney dysplasia |
OMIM:619774 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Low-set ears, Motor... |
ORPHA:300570 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behaviors, Frequent tem... |
OMIM:619512 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Thickened helices, Motor stereotypy, Cupped ear |
OMIM:610954 |
| Bainbridge-Ropers Syndrome |
|
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereotypy, Self-injurious... |
OMIM:615485 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Babinski sign, Truncal ataxia, Spasticity, Hearing impairment, Lower limb hypertonia, Short statu... |
OMIM:301072 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Apraxia, Oculomotor apraxia, Ataxia, Parkinsonism, Myoclonus |
ORPHA:1020 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fasciculations, Tremor |
ORPHA:209335 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcinosis, Nep... |
ORPHA:99880 |
| Fabry Disease |
|
Delayed puberty, Abnormal autonomic nervous system physiology, Fasciculations, Paresthesia |
OMIM:301500 |
| Joubert Syndrome 1 |
|
Low-set ears, Renal cyst, Optic disc coloboma, Nephropathy, Optic disc pallor |
OMIM:213300 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... |
OMIM:277000 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis, Sho... |
OMIM:617799 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Acute kidney injury, Ureteral duplication, Nephronophthisis, Hepatomegaly, Low-set ea... |
OMIM:266920 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Hearing impairment, Growth delay, Myoclonus |
OMIM:614946 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Pancreatic cysts, Renal cyst, Nephritis, Protein... |
OMIM:208500 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Ataxia, Optic disc pallor, Myoclonus |
OMIM:619167 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Parathyroid Carcinoma |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcinosis, Nep... |
ORPHA:143 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Renal cell carcinoma, Tinnitus, Multiple renal cysts, Epididyma... |
OMIM:193300 |
| Parkinson Disease 14, Autosomal Recessive |
|
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr... |
OMIM:612953 |
| Van Esch-O'Driscoll Syndrome |
|
Microtia, Impulsivity, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear |
OMIM:301030 |
| Alveolar Echinococcosis |
|
Bone cyst, Abnormal bladder morphology, Renal cyst, Hepatic cysts, Pancreatic cysts |
ORPHA:284 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior |
ORPHA:319182 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:2461 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Low-set ears, Splenomegaly, Opti... |
ORPHA:1454 |
| Thauvin-Robinet-Faivre Syndrome |
|
Protruding ear, Sensorineural hearing impairment, Renal cyst, Macrotia, Bifid ureter, Renal dyspl... |
OMIM:617107 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Microtia, Aplasia of the inner ear |
ORPHA:90024 |
| Opsoclonus-Myoclonus Syndrome |
|
Vertigo, Ovarian teratoma, Rigidity, Ataxia, Myoclonus, Limb myoclonus |
ORPHA:1183 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Low-set ears, Myoclonus |
ORPHA:314655 |
| Pgm3-Cdg |
|
Chronic otitis media, Cortical myoclonus, Sensorineural hearing impairment, Mild neurosensory hea... |
ORPHA:443811 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy |
OMIM:301040 |
| Rett Syndrome |
|
Agitation, Bruxism, Motor stereotypy, Stereotypical hand wringing |
ORPHA:778 |
| Genitopatellar Syndrome |
|
Hearing impairment, Hydronephrosis, Multicystic kidney dysplasia, Low-set ears |
ORPHA:85201 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Protruding ear... |
ORPHA:464311 |
| Norrie Disease |
|
Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morphology, Attenti... |
ORPHA:649 |
| Mckusick-Kaufman Syndrome |
|
Renal hypoplasia/aplasia, Aganglionic megacolon, Glandular hypospadias, Urogenital sinus anomaly,... |
ORPHA:2473 |
| Penile Agenesis |
|
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... |
ORPHA:49 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation... |
ORPHA:476126 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia |
OMIM:616640 |
| Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Myoclonus |
OMIM:619814 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Amyotrophic Lateral Sclerosis |
|
Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral s... |
ORPHA:803 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Ataxia, Choreoathetosis |
ORPHA:522077 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Low-set ears, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horsesh... |
ORPHA:99776 |
| Fatal Familial Insomnia |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
OMIM:600072 |
| X-Linked Intellectual Disability, Snyder Type |
|
Small earlobe, Low-set ears, Testicular atrophy, Abnormality of the Leydig cells, Involuntary mov... |
ORPHA:3063 |
| Angelman Syndrome |
|
Optic atrophy, Precocious puberty in females, Tremor, Delayed menarche, Ataxia, Myoclonus, Optic ... |
ORPHA:72 |
| Radio-Renal Syndrome |
|
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3015 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Hyperactivity, Sensorineural hearing impairment, Otosclerosis, Impulsiv... |
ORPHA:580 |
| Fryns Syndrome |
|
Aganglionic megacolon, Hypospadias, Low-set, posteriorly rotated ears, Vesicoureteral reflux, Hyd... |
ORPHA:2059 |
| Focal Dermal Hypoplasia |
|
Renal hypoplasia/aplasia, Low-set ears, Hearing impairment, Coarse metaphyseal trabecularization,... |
ORPHA:2092 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Agitation, Aggressive behavior, Restrictive behavior, Hyperactivity, Bilateral sensorineural hear... |
OMIM:619475 |
| Tuberous Sclerosis 2 |
|
Renal cell carcinoma, Renal cyst, Hearing impairment, Renal angiomyolipoma, Absence of renal cort... |
OMIM:613254 |
| Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Abnormal pinna morphology, Low-set ears, Renal hypoplasia, Neonatal death, Posterio... |
OMIM:269860 |
| Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Sensorineural hearing impairment, Renal cyst, Hyperechogenic kidney... |
OMIM:615636 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Spasticity, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclonus |
ORPHA:500144 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Hyperkinetic movements, Oculomotor apraxia, Chorea, Athetosis, Action tremor, Myoc... |
ORPHA:404454 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Growth delay, Myoclonus |
OMIM:614462 |
| Rheumatic Fever |
|
Fasciculations, Chorea, Hemiballismus |
ORPHA:3099 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Renal insufficiency, Renal cyst |
OMIM:617478 |
| Cog8-Cdg |
|
Ataxia, Myoclonus |
ORPHA:95428 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collect... |
OMIM:270400 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Ataxia, Horner syndrome, Myoclonus |
ORPHA:635 |
| Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Hypospadias, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea m... |
ORPHA:798 |
| Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response, Myoclonus |
OMIM:614618 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb hypertonia, Sensorineural hearing impairment, Cerebral palsy, Congenital hypothyroidism, Gro... |
OMIM:616973 |
| Hyperekplexia 2 |
|
Hypertonia, Exaggerated startle response, Myoclonus |
OMIM:614619 |
| Hyperekplexia 1 |
|
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus |
OMIM:149400 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Hypospadias, Low-set ears, Decreased skull ossification, Osteoporosis, ... |
ORPHA:955 |
| Serotonin Syndrome |
|
Hypertonia, Tremor, Abnormality of the autonomic nervous system, Clonus, Rigidity, Myoclonus |
ORPHA:43116 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Head tremor, Limb tremor, Torticollis, Myoclonus |
ORPHA:420492 |
| Whipple Disease |
|
Hypothyroidism, Abnormal pyramidal sign, Ataxia, Myoclonus |
ORPHA:3452 |
| Duane Retraction Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Stenosis of the external auditory ca... |
ORPHA:233 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor |
ORPHA:99965 |
| Fryns Syndrome |
|
Stillbirth, Ureteral duplication, Aganglionic megacolon, Hypospadias, Abnormal helix morphology, ... |
OMIM:229850 |
| Kinsship Syndrome |
|
Bruxism, Low-set ears, Motor stereotypy |
OMIM:619297 |
| Cerebrocostomandibular Syndrome |
|
Ectopic kidney, Calcaneal epiphyseal stippling, Low-set ears, Renal cyst, Conductive hearing impa... |
OMIM:117650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Recurrent otitis media, Posteriorly rotated ears, Motor stereotypy, Aggressive behavior |
OMIM:301066 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Hypospadias, Sensorineural hearing impairment, Abnormal pinna morphology, Vesicour... |
OMIM:616975 |
| Choreoacanthocytosis |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Resting tremor, Chorea, Blepharospasm, Abnormal... |
ORPHA:2388 |
| Unilateral Polymicrogyria |
|
Poor fine motor coordination, Involuntary movements, Hemiparesis, Giant somatosensory evoked pote... |
ORPHA:268943 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Overfolded helix, Motor stereotypy |
OMIM:618653 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Neonatal death, Myoclonus, Spastic tetraplegia, Intrauterine growth retardation |
OMIM:619055 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Hydroureter, Multicystic kidney dysplasia |
ORPHA:2241 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Small earlobe, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Overfolded helix |
OMIM:617330 |
| Tuberous Sclerosis 1 |
|
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst |
OMIM:191100 |
| Osteopathia Striata With Cranial Sclerosis |
|
Microtia, Low-set ears, Facial palsy, Conductive hearing impairment, Posteriorly rotated ears, Sc... |
OMIM:300373 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Attention deficit hyperactivity disorde... |
OMIM:620330 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Joubert Syndrome 6 |
|
Motor stereotypy |
OMIM:610688 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Low-set ears, Attention deficit hyperactivity disorder, Short ear, Posteriorly rot... |
OMIM:614756 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Abnormal Eustachian tube morphology, Stereotypical body rocking, Motor st... |
ORPHA:513456 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Hepatomegaly, Renal agenesis, Crossed fused renal ectopia, Renal dyspla... |
ORPHA:2538 |
| Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Hypertonia, Fasciculations, Spasticity, Involuntary movements, Macrotia, Myoclonus... |
ORPHA:284339 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor stereotypy, Prot... |
OMIM:309590 |
| Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Chronic otitis media, Glomerulopathy, Protruding ear, Hematuria... |
ORPHA:534 |
| Niemann-Pick Disease Type C |
|
Lower limb spasticity, Chorea, Tremor, Cataplexy, Upper motor neuron dysfunction, Frequent falls,... |
ORPHA:646 |
| Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Reduced bone mineral density, Multicystic kidney dysplasia, Renal insuffici... |
ORPHA:2750 |
| Nmda Receptor Encephalitis |
|
Orthostatic tachycardia, Orthostatic hypotension, Testicular teratoma, Abnormal sudomotor regulat... |
ORPHA:217253 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Low-set ears, Renal cyst, Simple ear, Splenomegaly, Left ventricular hypertrophy, C... |
OMIM:613610 |
| African Trypanosomiasis |
|
Abnormality of renin-angiotensin system, Abnormal central motor function, Impaired proprioception... |
ORPHA:3385 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Hearing impairment, Nephroblastoma, Multicystic kidney dysplas... |
ORPHA:1052 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Horner syndrome, Myoclonus |
OMIM:256700 |
| Early-Onset Lafora Body Disease |
|
Spastic tetraparesis, Ataxia, Myoclonus |
ORPHA:324290 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Microtia, Abnormality of the middle ear, Narrow internal auditory ... |
ORPHA:861 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... |
ORPHA:353281 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Intention tremor, Action tremor, Gait ataxia, Myoclonus, Postural tremor |
OMIM:254900 |
| Lathosterolosis |
|
Hearing impairment, Intrauterine growth retardation, Myoclonus |
ORPHA:46059 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Hyperaldosteronism, Myoclonic spasms |
ORPHA:73224 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Reduced bone mineral density, Multicystic kidney dysplasia |
ORPHA:1556 |
| Scorpion Envenomation |
|
Hyperkinetic movements, Tremor, Hemifacial spasm, Ataxia, Myoclonus, Paresthesia |
ORPHA:466677 |
| Arboleda-Tham Syndrome |
|
Chronic otitis media, Recurrent otitis media, Small earlobe, Underdeveloped tragus, Low-set ears,... |
OMIM:616268 |
| Adult-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... |
ORPHA:199351 |
| Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Myoclonus |
OMIM:168601 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal ang... |
ORPHA:538 |
| Pearson Syndrome |
|
Hepatomegaly, Renal cyst, Hearing impairment, Glycosuria, Proteinuria, Splenomegaly, Renal insuff... |
ORPHA:699 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Mixed hearing impairment, Renal cyst |
OMIM:272460 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Self-mutilation, Motor stereotypy |
OMIM:619005 |
| 1P36 Deletion Syndrome |
|
Optic atrophy, Abnormality of the kidney, Hypospadias, Low-set, posteriorly rotated ears, Hypopla... |
ORPHA:1606 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... |
OMIM:118450 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Renal hypoplasia/aplasia, Aganglionic megacolon, Hypospadias, Low-set, posteriorly... |
ORPHA:818 |
| Cerebrocostomandibular Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Multicystic kidney dysplasia |
ORPHA:1393 |
| Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy |
OMIM:300672 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Low-set, poste... |
ORPHA:373 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Renal cell carcinoma, Papilledema, Multiple renal cysts, Ep... |
ORPHA:892 |
| Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hearing impairment,... |
ORPHA:1507 |
| Niemann-Pick Disease, Type C2 |
|
Dysphagia, Motor stereotypy |
OMIM:607625 |
| Williams Syndrome |
|
Chronic otitis media, Hypoplasia of penis, Sensorineural hearing impairment, Nephrocalcinosis, Mu... |
ORPHA:904 |
| Distal Deletion 15Q |
|
Hypospadias, Multicystic kidney dysplasia, Low-set ears, Hearing impairment, Abnormal localizatio... |
ORPHA:1596 |
| Coffin-Siris Syndrome 12 |
|
Protruding ear, Sensorineural hearing impairment, Low-set ears, Posteriorly rotated ears, Motor s... |
OMIM:619325 |
| Listeriosis |
|
Tremor, Hearing impairment, Hemiparesis, Ataxia, Myoclonus, Somatic sensory dysfunction |
ORPHA:533 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Motor stereotypy |
ORPHA:508498 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Low-set ears, Hypospadias, Renal cyst |
ORPHA:495875 |
| Robinow Syndrome |
|
Mixed hearing impairment, Multicystic kidney dysplasia, Low-set ears, Hydronephrosis, Posteriorly... |
ORPHA:97360 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Hypoplasia of penis, Abnormal pelvis bone ossifica... |
ORPHA:93271 |
| Bardet-Biedl Syndrome |
|
Aganglionic megacolon, Low-set, posteriorly rotated ears, Hypoplasia of penis, Neurogenic bladder... |
ORPHA:110 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Tremor, Episodic ataxia, Precocious puberty, Myoclonus, Choreoathetosis |
ORPHA:1934 |
| Meckel Syndrome |
|
Optic atrophy, Ureteral duplication, Low-set, posteriorly rotated ears, Multicystic kidney dyspla... |
ORPHA:564 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... |
ORPHA:353277 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy |
ORPHA:508533 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Overfolded helix, Motor stereotypy |
OMIM:301044 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Exaggerated startle response, Involuntary movements, Hypothy... |
ORPHA:438213 |
| Pagod Syndrome |
|
Optic atrophy, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:991 |
| Townes-Brocks Syndrome |
|
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal tragus morp... |
ORPHA:857 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Blepharospasm, Upper motor neuron dysfunction, Eyelid ap... |
ORPHA:306674 |
| Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hydronephrosis, Multicystic kidney dysplasia, Low-set, poster... |
ORPHA:2308 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Renal insufficiency, Sensorineural hearing impairment, Microtia, Vesicoureteral refl... |
OMIM:107480 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Bile duct proliferation, Ataxia, Myoclonus, Paralysis, Tetraparesis |
OMIM:203700 |
| Developmental And Epileptic Encephalopathy 100 |
|
Dysphagia, Motor stereotypy |
OMIM:619777 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Microtia, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Att... |
OMIM:619522 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Simple ear, Protruding ear, Sel... |
OMIM:612474 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Mild hearing impairment, Recurrent otitis media, Lower limb spasticity, Microtia, Low-set ears, V... |
OMIM:616462 |
| Branchiooculofacial Syndrome |
|
Hypospadias, Sensorineural hearing impairment, Microtia, Facial palsy, Hypoplastic superior helix... |
OMIM:113620 |
| Primrose Syndrome |
|
Superiorly displaced ears, Calcification of the auricular cartilage, Tics, Hearing impairment, Ma... |
OMIM:259050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| Peters Plus Syndrome |
|
Optic atrophy, Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Low-set, posteriorly ... |
ORPHA:709 |
| Tetrasomy 9P |
|
Abnormal earlobe morphology, Recurrent urinary tract infections, Hydronephrosis, Multiple renal c... |
ORPHA:3310 |
| Lafora Disease |
|
Erratic myoclonus, Spasticity, Ataxia, Giant somatosensory evoked potentials, Myoclonus |
ORPHA:501 |
| C Syndrome |
|
Renal hypoplasia/aplasia, Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, Mul... |
ORPHA:1308 |
| Wolf-Hirschhorn Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... |
OMIM:194190 |
| Cornelia De Lange Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Low-set, posteriorly rotated ears... |
ORPHA:199 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypertonia, Ataxia, Spasticity, Myoclonus |
OMIM:618426 |
| Crimean-Congo Hemorrhagic Fever |
|
Fasciculations, Vertigo, Parotitis, Inappropriate antidiuretic hormone secretion, Orchitis, Adren... |
ORPHA:99827 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Renal agenesis, Hearing impairment... |
OMIM:308205 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Aganglionic megacolon, Hypospadias, Multicystic kidney dysplasia, Right uni... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Urinary incontinence, Aganglionic megacolon, Hypospadias, Multicystic ... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Urinary incontinence, Aganglionic megacolon, Hypospadias, Multicystic kidney dyspl... |
ORPHA:261552 |
| Genitopatellar Syndrome |
|
Hearing impairment, Hydronephrosis, Micropenis, Multicystic kidney dysplasia |
OMIM:606170 |
| Craniofacial Microsomia 1 |
|
Ectopic kidney, Sensorineural hearing impairment, Microtia, Vesicoureteral reflux, Underdeveloped... |
OMIM:164210 |
| Pallister-Killian Syndrome |
|
Stillbirth, Hypospadias, Low-set ears, Renal cyst, Hearing impairment, Macrotia, Posteriorly rota... |
OMIM:601803 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy |
OMIM:616682 |
| Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Aggressive behavior |
OMIM:309000 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Osteopenia, Abnormal pinna morphology, Osteoporosis, Nephrotic ... |
ORPHA:79318 |
