Phenotypes for disease #01802 (GM1G1 (gangliosidosis, GM1, type I), OMIM:230500)

21 entries on 1 page. Showing entries 1 - 21.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000232561 HP:0010729 Cherry red spot of the macula HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0001789 Hydrops fetalis HP:0000817 Poor eye contact HP:0000505 Visual impairment - - Unknown - 01y 00y04m - - Sarah Snanoudj 00306727
0000232677 HP:0003330 Abnormal bone structure HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0002509 Limb hypertonia HP:0000817 Poor eye contact HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0001250 Seizures HP:0001744 Splenomegaly HP:0000505 Visual impairment - - Familial, autosomal recessive - 00y07m 00y04m - - Sarah Snanoudj 00306847
0000232736 HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002509 Limb hypertonia HP:0000817 Poor eye contact HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0001250 Seizures HP:000320 Skeletal muscle atrophy - - Familial, autosomal recessive - 00y10m 00y10m - - Sarah Snanoudj 00306913
0000232737 HP:0001789 Hydrops fetalis - - Unknown - 00y00m 00y00m HP:0001789 - Sarah Snanoudj 00306914
0000232738 HP:0001789 Hydrops fetalis - - Familial, autosomal recessive - 00y00m 00y00m HP:0001789 - Sarah Snanoudj 00306915
0000232739 HP:0001263 Global developmental delay HP:0002344 Progressive neurologic deterioration HP:0001249 Intellectual disability HP:0002808 Kyphosis HP:0002650 Scoliosis HP:0000505 Visual impairment - - Familial, autosomal recessive - 01y06m 01y06m - - Sarah Snanoudj 00306916
0000232915 HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002808 Kyphosis HP:0002509 Limb hypertonia HP:0000639 Nystagmus HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0002650 Scoliosis HP:0001250 Seizures - - Familial, autosomal recessive - 00y09m 00y05m - - Sarah Snanoudj 00307109
0000232918 HP:0010729 Cherry red spot of the macula HP:0002910 Elevated hepatic transaminase HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0001744 Splenomegaly - - Familial, autosomal recessive - 02y 02y - - Sarah Snanoudj 00307112
0000233176 HP:0001789 Hydrops fetalis - - Familial, autosomal recessive - - - - - Sarah Snanoudj 00307573
0000233177 - - - Familial, autosomal recessive - 00y06m 00y05m - - Sarah Snanoudj 00307574
0000233178 HP:0003330 Abnormal bone structure HP:0001999 Abnormal facial shape HP:0002086 Abnormality of the respiratory system HP:0010729 Cherry red spot of the macula HP:0002015 Dysphagia HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0002344 Progressive neurologic deterioration HP:000320 Skeletal muscle atrophy HP:0000505 Visual impairment - - Familial, autosomal recessive - 00y04m 00y03m - - Sarah Snanoudj 00307575
0000257293 neuroregression, cherry red spots, hepatosplenomegaly - - Familial, autosomal recessive - - - - - Anju Shukla 00361899
0000284164 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390628
0000284165 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390629
0000284166 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390630
0000284167 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390631
0000284168 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390632
0000284169 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390633
0000284170 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390634
0000284171 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390635
0000284172 - lysosomal acid lipase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00390636
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