Phenotypes for disease #05523 (HLD (leukodystrophy, hypomyelinating (HLD)))

281 entries on 3 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
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0000155328 tremor-ataxia with central hypomyelination (TACH) HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 5y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 2y - Johan den Dunnen 00207553
0000155329 tremor-ataxia with central hypomyelination (TACH) HLD-7 developmental delay; cognitive regression; seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 1y - Johan den Dunnen 00207554
0000155330 tremor-ataxia with central hypomyelination (TACH) HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 5y - Johan den Dunnen 00207555
0000155331 tremor-ataxia with central hypomyelination (TACH) HLD-7 no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy Familial, autosomal recessive - - 3y - Johan den Dunnen 00207556
0000155332 tremor-ataxia with central hypomyelination (TACH) HLD-7 no developmental delay; cognitive regression; no seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 12y wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; no nerve biopsy Familial, autosomal recessive - - 3y - Johan den Dunnen 00207557
0000155333 tremor-ataxia with central hypomyelination (TACH) HLD-7 no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; Familial, autosomal recessive - - 5y - Johan den Dunnen 00207558
0000155334 hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome HLD-7 no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy Familial, autosomal recessive - - 13y - Johan den Dunnen 00207559
0000155335 hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 10y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; Familial, autosomal recessive - - 0y - Johan den Dunnen 00207560
0000155336 hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome HLD-7 no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 30y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy Familial, autosomal recessive - - 13y - Johan den Dunnen 00207561
0000155337 hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy Familial, autosomal recessive - - 12y - Johan den Dunnen 00207562
0000155338 hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; hypogonadotropic hypogonadism; Familial, autosomal recessive - - 1y - Johan den Dunnen 00207563
0000155339 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 23y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 13y - Johan den Dunnen 00207564
0000155340 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 12y - Johan den Dunnen 00207565
0000155341 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 11y - Johan den Dunnen 00207566
0000155342 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 11y - Johan den Dunnen 00207567
0000155343 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 12y - Johan den Dunnen 00207568
0000155344 leukodystrophy with oligodontia (LO) HLD-7 no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; Familial, autosomal recessive - - 12y - Johan den Dunnen 00207569
0000155345 leukodystrophy with oligodontia (LO) HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy Familial, autosomal recessive - - 3y - Johan den Dunnen 00207570
0000155346 leukodystrophy with oligodontia (LO) HLD-7 developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 9y wheelchair bound; hypodontia Familial, autosomal recessive - - 2y - Johan den Dunnen 00207571
0000245288 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326825
0000245289 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326826
0000245290 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326827
0000245291 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326828
0000245292 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326829
0000245293 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326830
0000245294 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326831
0000245295 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326832
0000245296 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326833
0000245297 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326834
0000245298 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326835
0000245299 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326836
0000245300 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326837
0000245301 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326838
0000245302 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326839
0000245303 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326840
0000245304 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326841
0000245305 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326842
0000245306 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326843
0000245307 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326844
0000245308 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326845
0000245309 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326846
0000245310 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326847
0000245311 4H leukodystrophy - - Unknown - - - - Johan den Dunnen 00326848
0000245312 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326849
0000245313 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326850
0000245314 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326851
0000245315 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326852
0000245316 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326853
0000245317 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326854
0000245318 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326855
0000245319 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326856
0000245320 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326857
0000245321 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326858
0000245322 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326859
0000245323 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326860
0000245324 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326861
0000245325 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326862
0000245326 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326863
0000245327 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326864
0000245328 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326865
0000245329 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326866
0000245330 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326867
0000245331 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326868
0000245332 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326869
0000245333 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326870
0000245334 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326871
0000245335 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326872
0000245336 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326873
0000245337 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326874
0000245338 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326875
0000245339 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326876
0000245340 4H leukodystrophy - - Unknown - - - - Johan den Dunnen 00326877
0000245341 4H leukodystrophy - - Unknown - - - - Johan den Dunnen 00326878
0000245342 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326879
0000245343 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326880
0000245344 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326881
0000245345 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326882
0000245346 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326883
0000245347 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326884
0000245348 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326885
0000245349 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326886
0000245350 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326887
0000245351 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326888
0000245352 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326889
0000245353 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326890
0000245354 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326891
0000245355 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326892
0000245356 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326893
0000245357 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326894
0000245358 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326895
0000245359 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326896
0000245360 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326897
0000245361 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326898
0000245362 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326899
0000245363 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326900
0000245364 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326901
0000245365 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326902
0000245366 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326903
0000245367 4H leukodystrophy HLD8 - Familial, autosomal recessive - - - - Johan den Dunnen 00326904
0000245368 4H leukodystrophy HLD7 - Familial, autosomal recessive - - - - Johan den Dunnen 00326905
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