Phenotypes for disease #02819 (SPDRS (salt and pepper developmental regression syndrome (SPDRS)), OMIM:609056)

5 entries on 1 page. Showing entries 1 - 5.
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Age/Onset     

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Individual ID     
0000105426 Epilepsy geneneralized Seizures - - Unknown 09y 07y 05y 5y - Sumaira Kanwal 00132653
0000132929 see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation salt & pepper syndrome SPDRS Familial, autosomal recessive - - - - - Johan den Dunnen 00168063
0000132932 infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening - SPDRS Familial, autosomal recessive - - - - - Johan den Dunnen 00168066
0000302357 global developmental delay (HP:0001263); involuntary movements (HP:0004305) (shaking head, flapping limbs); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); scoliosis (HP:0002650); feeding difficulties, irritability, poor eye contact, skin pigmentation; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 25y-severe intellectual disability developmental delay SPDRS Familial, autosomal recessive 20y - 00y01m Irritability (HP:0000737) - Shiena Watanabe 00410252
0000346393 see paper; ..., global developmental delay (HP:0001263); involuntary movements (HP:0004305) (6m-resteless movements); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); feeding difficulties, irritability; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 18y-bedridden, no voluntary/involuntary movements, intractable epilepsy, spastic quadriplegia, severe constipation, requires strict management intestinal dysfunction, frequent treatment for pneumonia developmental delay SPDRS Familial, autosomal recessive 18y - - - - Johan den Dunnen 00457943
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