Phenotypes for disease #00969 (AAAS (achalasia-addisonianism-alacrimia syndrome), OMIM:231550)

20 entries on 1 page. Showing entries 1 - 20.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000302843 see paper; ..., lacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, autonomic dysfunction Allgrove syndrome AAAS Familial, autosomal recessive 29y - - - - Johan den Dunnen 00410752
0000314482 3y3m-adrenal insufficiency; neonatal onset alacrima; 3y5m-onset achalasia; hyperreflexia, learning disability, muscle weakness, delayed walking, nasal speech, excessive sweating; multiple dental caries, atrophy of the thenar/hypothenar muscles triple A syndrome AAAS Familial, autosomal recessive 11y4m - - - - Johan den Dunnen 00423275
0000314483 6y9m-adrenal insufficiency; neonatal onset alacrima; 3y-onset achalasia; learning disability, muscle weakness, delayed walking, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis triple A syndrome AAAS Familial, autosomal recessive 11y7m - - - - Johan den Dunnen 00423276
0000314484 7y2m-adrenal insufficiency; neonatal onset alacrima; muscle weakness, delayed walking, delayed speech; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles triple A syndrome AAAS Familial, autosomal recessive 9y2m - - - - Johan den Dunnen 00423277
0000314485 3y-adrenal insufficiency; neonatal onset alacrima; 3y3m-onset achalasia; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles triple A syndrome AAAS Familial, autosomal recessive 6y4m - - - - Johan den Dunnen 00423278
0000314486 2y5m-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; excessive sweating; palmoplantar hyperkeratosis, triple A syndrome AAAS Familial, autosomal recessive 5y - - - - Johan den Dunnen 00423279
0000314487 neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating triple A syndrome AAAS Familial, autosomal recessive 2y9m - - - - Johan den Dunnen 00423280
0000314488 3y-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; hyperreflexia, delayed walking, delayed speech nasal speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, short stature triple A syndrome AAAS Familial, autosomal recessive 5y8m - - - - Johan den Dunnen 00423281
0000314489 neonatal onset alacrima; 3y9m-onset alacrima; delayed walking, muscle weakness, delayed speech; multiple dental caries, short stature triple A syndrome AAAS Familial, autosomal recessive 3y11m - - - - Johan den Dunnen 00423282
0000314490 5y-adrenal insufficiency; neonatal onset alacrima; 9y-onset achalasia; hyperreflexia, muscle weakness, delayed speech, nasal speech, excessive sweating; multiple dental caries, short stature triple A syndrome AAAS Familial, autosomal recessive 14y6m - - - - Johan den Dunnen 00423283
0000314491 3y-adrenal insufficiency; neonatal onset alacrima; 4y-onset achalasia; hyperreflexia, learning disability; short stature triple A syndrome AAAS Familial, autosomal recessive 15y6m - - - - Johan den Dunnen 00423284
0000314492 2y7m-adrenal insufficiency; neonatal onset alacrima; hyperreflexia, nasal speech, epilepsy; multiple dental caries, atrophy of the thenar/hypothenar muscles triple A syndrome AAAS Familial, autosomal recessive 9y7m - - - - Johan den Dunnen 00423285
0000314493 3y-adrenal insufficiency; neonatal onset alacrima; 11y3m-onset achalasia; hyperreflexia, muscle weakness, nasal speech, optic atrophy; multiple dental caries triple A syndrome AAAS Familial, autosomal recessive 12y9m - - - - Johan den Dunnen 00423286
0000343446 see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; dysphagia, recurrent choking; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 12y - - - - Johan den Dunnen 00454836
0000343447 see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; suspect achalasia; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 10y - - - - Johan den Dunnen 00454837
0000343448 see paper; ..., mild intellectual disability; motor impairment; EMG polyneuropathy; alacrima; no dysphagia/achalasia; facial weakness; tongue fasciculations; growth delay; no epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 13y - - - - Johan den Dunnen 00454838
0000343449 see paper; ..., no intellectual disability; motor impairment; polyneuropathy; alacrima; no dysphagia/achalasia; tongue fasciculations; growth delay; no epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 10y - - - - Johan den Dunnen 00454839
0000343450 see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; achalasia; facial weakness; no tongue fasciculations; growth delay; no epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 25y - - - - Johan den Dunnen 00454840
0000343451 see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; alacrima; achalasia; facial weakness; hypotonia; no tongue fasciculations; growth delay; epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 26y - - - - Johan den Dunnen 00454841
0000343452 see paper; ..., severe intellectual disability; severe motor impairment; no polyneuropathy; no alacrima; dysphagia; hypotonia; no tongue fasciculations; no growth delay; epilepsy triple A syndrome AAAS2 Familial, autosomal recessive 12y - - - - Johan den Dunnen 00454842
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