Phenotypes for disease #04225 (neurodegeneration)

39 entries on 1 page. Showing entries 1 - 39.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000027612 see paper; infantile-onset neurodegenerative disorder, predominant sensorimotor axonal neuropathy, optic atrophy, cognitive deficit - - Isolated (sporadic) - - - - - Johan den Dunnen 00034216
0000161616 see paper; ... pyruvate carboxylase deficency pyruvate carboxylase deficency Familial, autosomal recessive 02y - - - - Emanuele Coci 00213141
0000170579 4y-died in sleep; birth normal; early development normal; spoke in sentences but then deteriorated; normal motor development but then deteriorated; 18m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; phenotype exacerbated by illness and/or stress neurodegenerative disorder CONDSIAS Familial, autosomal recessive 04y - - - - Johan den Dunnen 00225464
0000170580 birth normal; early development normal; slow speech; normal motor development, 2y-deteriorated; normal but then started deteriorating at age 11 yeras; 11y-MRI cerebellar vermis atrophy; 11y-unsteady gait; phenotype exacerbated by illness and/or stress; 11y-myopathic changes on muscle biopsy neurodegenerative disorder CONDSIAS Familial, autosomal recessive 16y - - - - Johan den Dunnen 00225465
0000170581 birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation neurodegenerative disorder CONDSIAS Familial, autosomal recessive 15y - - - - Johan den Dunnen 00225466
0000170582 birth normal; early development normal; normal speech; normal motor development, 2y-deteriorated; generalized tonic-clonic seizure with illness; mild intellectual disability (IQ 60); 3y-EEG mild slowing background activity; 4y-MRI mild cerebellar atrophy; 4y-normal muscle biopsy; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; asthma neurodegenerative disorder CONDSIAS Familial, autosomal recessive 13y - - - - Johan den Dunnen 00225467
0000170583 6y-died in sleep; birth normal; early development normal; normal until 1.5y but then deteriorated with difficulty speaking; normal motor development, 1y-deteriorated; 24m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG generalized epileptiform activity, slow background; 4y-EMG normal; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, tremors, frequent falling neurodegenerative disorder CONDSIAS Familial, autosomal recessive 06y - - - - Johan den Dunnen 00225468
0000170584 birth normal; early development normal; speech delayed; normal; mild intellectual disability; EEG normal; 15y-MRI mild cerebellar vermis atrophy, spinal cord atrophy; axonal polyneuropathy; 10y-unsteady gait; phenotype exacerbated by illness and/or stress; distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep-tendon reflexs, positive Babinski reflex, intentional tremor, ataxia neurodegenerative disorder CONDSIAS Familial, autosomal recessive 10y - - - - Johan den Dunnen 00225469
0000170585 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225470
0000170586 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225471
0000170587 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225472
0000170588 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225473
0000170589 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225474
0000170590 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225475
0000170591 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225476
0000170592 see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy neurodegeneration CONDSIAS Familial, autosomal recessive - - - - - Johan den Dunnen 00225477
0000171217 neuronal ceroid lipofuscinosis, progressive tetraparesis, cognitive and motor decline; until 2.5y normal developmental milestones; 2.5y-language; 3.5y-motor regression, frequent falls, loss of manual skills and language abilities;10y-moderate intellectual disability, severe hypopostural spastic-dystonic tetraparesis associated with ballistic-choreic movements, severe dysarthria, drooling, reduced visual acuity both eyes, optic disks normal, electroretinogram normal; no epileptic seizures, awake EEG examination normal background activity with multifocal spike-and-wave complexes on posterior regions bilaterally and marked photoparoxysmal response, during sleep irregular pseudoperiodic polyspike-and-wave complexes; occasional myoclonic jerks limbs; MRI brain 8y/10-unremarkable; electron microscopy skin biopsy enlarged lysosomes containing storage material, including curved tubular aggregates neuronal ceroid lipofuscinosis NEDAMSS Isolated (sporadic) 10y - - - - Enza Maria Valente 00226110
0000179406 Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639) - - Familial, autosomal recessive 00y00m09d - - - ACO2 Thomas Foulonneau 00239184
0000244973 HP:0002500 HP:0000486 HP:0002307 HP:0001339 HP:0000316 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Familial, autosomal recessive 02y? 02y? ? HP:0002500, HP:0000486, HP:0002307, HP:0001339, HP:0000316 PLAA Ehsan Razmara 00326505
0000274071 see paper; ..., lactic acidosis, generalized hypotonia - - Familial, autosomal recessive 02y - - - - Johan den Dunnen 00380216
0000274072 see paper; ... - - Unknown 00y22m - - - - Johan den Dunnen 00380217
0000274073 see paper; ... - - Unknown 06y - - - - Johan den Dunnen 00380218
0000288852 2y-died in sleep; birth normal; early development normal; 2y-speech few words; normal motor development until death; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; neurodegenerative disorder CONDSIAS Familial, autosomal recessive 2y - - - - Johan den Dunnen 00395653
0000288853 7y-died from seisure; birth normal; early development normal; speech normal until 2.5y but then no further development; normal motor development but then deteriorated; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; neurodegenerative disorder CONDSIAS Familial, autosomal recessive 7y - - - - Johan den Dunnen 00395654
0000288854 15y-died respiratory failure; birth normal; early development normal; speech normal until 3.5y but then deteriorated; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 5y-MRI normal; 3y-unsteady gait; phenotype exacerbated by illness and/or stress; hypotonia with repeated pneumonia, ventilator dependent at time of death neurodegenerative disorder CONDSIAS Familial, autosomal recessive 15y - - - - Johan den Dunnen 00395655
0000288855 birth normal; early development normal; speaks only a few words; normal motor development but then deteriorated; 15m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; can walk but is very unsteady neurodegenerative disorder CONDSIAS Familial, autosomal recessive 4y - - - - Johan den Dunnen 00395656
0000288856 2y-died in sleep 1 week after flu-like illness; birth normal; early development normal; normal speech until death; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness neurodegenerative disorder CONDSIAS Familial, autosomal recessive 2y - - - - Johan den Dunnen 00395657
0000288857 2y-died fron seizure after playing; birth normal; early development normal; normal speech until death; normal motor development until death; 15m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness neurodegenerative disorder CONDSIAS Familial, autosomal recessive 2y - - - - Johan den Dunnen 00395658
0000288858 9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy neurodegenerative disorder CONDSIAS Familial, autosomal recessive 9y - - - - Johan den Dunnen 00395659
0000288859 birth normal; early development normal; normal speech but then deteriorated; 14m-walk, 19m-ataxia, poor balance; 16m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; 20m-unsteady gait; phenotype exacerbated by illness and/or stress; normal hearing but then developed severe SNHL, severe kyphoscoliosis, one episode of cardiac arrest neurodegenerative disorder CONDSIAS Familial, autosomal recessive 3y - - - - Johan den Dunnen 00395660
0000288860 birth normal; mild developmental delay; speech delayed; motor development mildly delayed; 9m-onset seizures; generalized tonic-clonic seizure with illness; mild global developmental delay; EEG normal; 11m-MRI normal; phenotype exacerbated by illness and/or stress; neurodegenerative disorder CONDSIAS Familial, autosomal recessive 2y - - - - Johan den Dunnen 00395661
0000288861 birth normal; early development normal; speaks only a few words; normal motor development, 1.5y-deteriorated; 36m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG normal; 3y-MRI normal; 4y-axonal polyneuropathy; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, progressive external ophthalmoplegia neurodegenerative disorder CONDSIAS Familial, autosomal recessive 3y - - - - Johan den Dunnen 00395662
0000295644 - - - Familial, autosomal recessive - - - - - Barbara Vona 00402893
0000341328 HP:0007325, HP:0001257, HP:0033044, HP:0025406, HP:0004322, HP:0011098, HP:0000252 - - Isolated (sporadic) - - - - - Marketa Wayhelova 00452748
0000342130 HP:0000545, HP:0000483, HP:0002650, HP:0003698, HP:0001263, HP:0001260, HP:0001251, HP:0001337, HP:0001272, HP:0100585 neurodegeneration SANDHOFF Isolated (sporadic) - - - - - Marketa Wayhelova 00453466
0000342140 He presents with global developmental delay and regression. His birth history was not remarkable. Motor regression occurred at 7-8 months, and he exhibits no speech, hypotonia, and self-injurious behavior. Additionally, he shows reduced pain sensation and an inability to comprehend language. Brain MRI revealed cerebellar atrophy, similar to his older sister. Progressive regression occurred after 1 year, with developmental delay, inability to sit, roll over, or move limbs freely, and hypotonia. He has poor chewing ability, limited speech expression, and a poor response to rehabilitation. Unfortunately, he deceased at 5 years and 6 months. Brain MRI showed cerebellar atrophy and abnormal signals in the bilateral dentate and globus pallidus. mental retardation Neurodegeneration with brain iron accumulation 2B Familial, autosomal recessive 02y01m 03y - - - Xiaomei Luo 00453477
0000342141 The patient is a 6 years and 8 months old boy with global developmental delay and generalized hypotonia. Seizures started at two months of age. Currently, at 7 years of age, he has significant motor limitations, unable to lift his head, sit independently, walk, or speak. Neurological examination shows poor visual tracking and response to sound. Brain MRI shows abnormally wide cerebral gyri with thickening of the cerebral cortex. mental retardation Lissencephaly 1 Isolated (sporadic) - 07y - - - Xiaomei Luo 00453478
0000342142 The patient presents with developmental delay and seizures. Brain MRI shows dysgenesis of the corpus callosum with absent vermis, and an abnormal EEG indicates epileptic discharges. Karyotyping revealed a de novo reciprocal translocation between chromosome 2p and 6q. mental retardation mental retardation Isolated (sporadic) - - - - - Xiaomei Luo 00453480
0000351789 - global developmental delay - Isolated (sporadic) 07y 07y - - - Tadashi Kaname 00466424
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