Phenotypes for disease #00823 (MRXSCJ (mental retardation, X-linked, syndromic, Claes-Jensen type), OMIM:300534)

13 entries on 1 page. Showing entries 1 - 13.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

Protein     

Owner     

Individual ID     
0000298279 Short stature (HP:0004322), Global developmental delay (HP:0001263), Intellectual disability, severe HP:0010864, Bilateral tonic-clonic seizure HP:0002069, Hyperreflexia HP:0001347, Sleep disturbance HP:0002360, Attention deficit hyperactivity disorder HP:0007018, Mood swings HP:0000720, Aggressive behavior HP:0000718, Severe temper tantrums HP:0025162 - - Familial, X-linked 11y - - - - - Emanuela Leonardi 00405782
0000298281 Asymptomatic - - Familial, X-linked - - - - - - Emanuela Leonardi 00405784
0000298301 - - - Familial, X-linked - - - - - - Emanuela Leonardi 00405804
0000298302 Infantile axial hypotonia HP:0009062, Limb hypertonia HP:0002509, Hypothyroidism HP:0000821, Hypermetropia HP:0000540, Exophoria HP:0025313, convergent strabismus HP:0020045, - - Isolated (sporadic) 02y - - - - - Emanuela Leonardi 00405805
0000300408 Intellectual disability, mild HP:0001256; Growth delay HP:0001510; Severe temper tantrums HP:0025162; Aggressive behavior HP:0000718; Seizure HP:0001250 - MRXLCJ Unknown 09y - - - - - Emanuela Leonardi 00408280
0000300409 - - - Familial, X-linked dominant 08y - - - - - Emanuela Leonardi 00408281
0000300412 Autistic behavior HP:0000729; Intellectual disability, moderate HP:0002342; - - Isolated (sporadic) 13y - - - - - Emanuela Leonardi 00408285
0000300423 Intellectual disability, severe HP:0010864; Attention deficit hyperactivity disorder HP:0007018; Spasticity HP:0001257; Seizure HP:0001250 - - Familial, X-linked 06y - - - - - Emanuela Leonardi 00408297
0000300424 Intellectual disability, severe HP:0010864; Severe temper tantrums HP:0025162; Attention deficit hyperactivity disorder HP:0007018; Aggressive behavior HP:0000718; Sleep disturbance HP:0002360 - - Familial, X-linked 06y - - - - - Emanuela Leonardi 00408298
0000300442 - - - Familial, X-linked 15y - - - - - Emanuela Leonardi 00408300
0000300444 - - - Isolated (sporadic) 06y - - - - - Emanuela Leonardi 00408318
0000300445 - - - Unknown 48y - - - - - Emanuela Leonardi 00408319
0000300446 - - - Familial, X-linked 09y - - - - - Emanuela Leonardi 00408320
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