All individuals with variants in gene ST3GAL5

34 entries on 1 page. Showing entries 1 - 34.
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00168052 patient PubMed: Indellicato 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy white 13y - - - CDG includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy. HP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151 1 1 Marco Trinchera
00168053 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - - - - epilepsy see paper; ..., infantile-onset symptomatic epilepsy syndrome, developmental stagnation, blindness 1 9 Johan den Dunnen
00168063 FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - - - - SPDRS see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation 1 3 Johan den Dunnen
00168064 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - - - - ? see paper; ..., delayed speech, hand stereotypies with a loss of purposeful hand movements, choreoathetosis, no clinical seizures; microcephaly (1), other small head circumference (1) 2 2 Johan den Dunnen
00168065 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - - - - epilepsy see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness 1 2 Johan den Dunnen
00168066 Pats PubMed: Wang 2013, PubMed: Wang 2016 38 individuals (19F, 19M), unaffected heterozygous carrier parents/relatives (8 reported before) F;M yes United States - - - - - SPDRS 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 1 26 Johan den Dunnen
00375657 Pat54 PubMed: Srivastava 2014 family, several affected - yes United States - - - - - ? intellectual disability/developmental delay; spastic quadriplegia; blindness; deafness; spastic quadriplegia, decreased muscle bulk, hypotonia; self-injurious behavior, stereotyped behavior; MRI brain normal 1 2 Johan den Dunnen
00410252 FamPat1 PubMed: Watanabe 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Japan China - - - - SPDRS 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 2 2 Shiena Watanabe
00440437 PED2599.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00457913 patient PubMed: Mu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - NDD see paper; ..., brith neonatal jaundice; 3m-high fever, generalized rigidity, clenched fists, staring eyes, cyanosis lips (1 min) 2 1 Johan den Dunnen
00457914 patient PubMed: Liang 2020 - - - China - - - - - ? - 2 1 Johan den Dunnen
00457915 FamPatIV2 PubMed: Manoochehri 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents F - Iran - - - - - NDD see paper; ..., global developmental delay; prenatal 18w-microcephaly; normal birth parameters, subsequent regression; failed to reach developmental milestones; 2m-irritability, poor feeding, failure to thrive 1 1 Johan den Dunnen
00457916 patient PubMed: Rudy 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States African-American;white - - - - NDD see paper; ..., birth normal growth parameters, poor growth early in life, global developmental delay, microcephaly, EEG abnormal, seizures, mild dyskinetic movements (at 4m), early childhood MRI brain normal, feeding difficulties, reflux, vomiting, constipation, scoliosis, contractures, hearing impairment, cortical visual impairment, exotropia, esotropia, optic nerve atrophy, dyspigmentation skin, irritability, poor sleep 2 1 Johan den Dunnen
00457924 Fam1Pat1 PubMed: Heide 2022 family, 2 affected F - Reunion - - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; no optic atrophy/pale papillae; 16m-myoclonic seizures; microcephaly (SD-2.9); hypotrophy; choreo-athetosis, stereotypies; 5y-skin hyper/hypopigmented macules 1 2 Johan den Dunnen
00457925 Fam1Pat2 PubMed: Heide 2022 relative M - Reunion - - - - - ? see paper; ..., feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; optic atrophy/pale papillae; 14m-myoclonic seizures; no microcephaly (SD-1.7); no hypotrophy; choreo-athetosis, stereotypies; normal pigmentation skin 1 1 Johan den Dunnen
00457926 Fam2Pat3 PubMed: Heide 2022 - M - Reunion - - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no eye contact; optic atrophy/pale papillae; epilepsy; microcephaly (SD); no hypotrophy; normal pigmentation skin 1 1 Johan den Dunnen
00457927 Fam3Pat4 PubMed: Heide 2022 family, 2 affected F - Reunion - - - - - ? see paper; ..., feeding difficulties; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; epilepsy; microcephaly (SD-4.4); hypotrophy; dyskinesia, chorea; normal pigmentation skin 1 2 Johan den Dunnen
00457928 Fam3Pat5 PubMed: Heide 2022 relative M - Reunion - - - - - ? see paper; ..., no feeding difficulties; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; optic atrophy/pale papillae; epilepsy; microcephaly (SD-2.7); hypotrophy; dyskinesia, chorea; normal pigmentation skin 1 1 Johan den Dunnen
00457929 Fam4Pat6 PubMed: Heide 2022 - F - Reunion - - - - - ? see paper; ..., no feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal;  ; no hearing loss; poor eye contact; optic atrophy/pale papillae; 7m-infantile spasms; no microcephaly (SD-1.8); hypotrophy; truncal hypotonia; normal pigmentation skin 1 1 Johan den Dunnen
00457930 Fam5Pat7 PubMed: Heide 2022 - M - Reunion - - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; purposeful absent use of hands; no hearing loss; eye contact; no epilepsy; no microcephaly (SD-1.4); no hypotrophy; choreo-athetosis; 2y-one café-au-lait spot 1 1 Johan den Dunnen
00457931 Fam6Pat8 PubMed: Heide 2022 - M - Reunion - - - - - ? see paper; ..., feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; eye contact; optic atrophy/pale papillae; 14m-tonic-clonic seizures; microcephaly (SD-4); hypotrophy; normal pigmentation skin 1 1 Johan den Dunnen
00457932 Fam7Pat9 PubMed: Heide 2022 - M - Reunion - - - - - ? see paper; ..., no feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; eye contact; 6m-infantile spasms; microcephaly (SD-2.8); hypotrophy; choreo-athetosis; normal pigmentation skin 1 1 Johan den Dunnen
00457933 Fam8Pat10 PubMed: Heide 2022 - M - Reunion;Cote D'Ivoire (Ivory Coast) - - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; microcephaly (SD-2.6); hypotrophy; truncal hypotonia, distal choreo-dystonic movements, stereotypies; 6y-skin hyper/hypopigmented macules 2 1 Johan den Dunnen
00457934 Fam9Pat11 PubMed: Heide 2022 family, 2 affected M - Algeria - - - - - ? see paper; ..., no feeding difficulties; irritability; severe intellectual disability; 14m-sit; 3y-clumsy gait; nonverbal;  ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.6); no hypotrophy; choreo-athetosis; normal pigmentation skin 1 2 Johan den Dunnen
00457935 Fam9Pat12 PubMed: Heide 2022 relative M - Algeria - - - - - ? see paper; ..., no feeding difficulties; irritability; severe intellectual disability; not sitting; not walking; nonverbal;  ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.3); no hypotrophy; choreo-athetosis; normal pigmentation skin 1 1 Johan den Dunnen
00457936 Fam10Pat13 PubMed: Heide 2022 family, 2 affected F - Italy Europe - - - - ? see paper; ..., feeding difficulties; irritability; severe intellectual disability; 2y-sit; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 2y6m-infantile spasms, focal motor seizures; no microcephaly (SD-2); no hypotrophy; truncal hypotonia; skin hyperpigmented spots hands and feet 2 2 Johan den Dunnen
00457937 Fam10Pat14 PubMed: Heide 2022 relative F - Italy Europe - - - - ? see paper; ..., no feeding difficulties; severe intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 5m-infantile spasms, focal motor seizures; no microcephaly (SD-1.1); no hypotrophy; truncal hypotonia; skin hyperpigmented spots on back 2 1 Johan den Dunnen
00457938 Fam11Pat15 PubMed: Heide 2022 - F - Italy Europe - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; myoclonic seizures; microcephaly (SD-6.8); hypotrophy; stereotypies, axial hypotonia, dyskinesia; hyperpigmented skin, small maculas hands and feet 1 1 Johan den Dunnen
00457939 Fam12Pat16 PubMed: Heide 2022 - F - Italy Europe - - - - ? see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; no optic atrophy/pale papillae; 4m-infantile spasms, myoclonic seizures; microcephaly (SD-4.5); hypotrophy; stereotypies, axial hypotonia, dyskinesia; normal pigmentation skin 2 1 Johan den Dunnen
00457940 FamPatIV1 PubMed: Abdulkareem 2023 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier first-degree cousin parents/relatives F yes Saudi Arabia - - - - - NDD see paper; ..., 3y-global developmental delay, short stature, failure to thrive; no facial dysmorphic features; 2y-seizures, retinal degeneration; EEG 3y-bilateral/symmetric spike/wave complexes, polyspikes; unable to sit; no speech; unable to follow commands; intellectual disability (DQ3), dystonic cerebral palsy; growth parametersweiht/height <1st percentile, OFC 52 cm (2nd percentile) 1 3 Johan den Dunnen
00457941 FamPatIV2 PubMed: Abdulkareem 2023 sister F yes Saudi Arabia - - - - - NDD see paper; ..., severe atopic dermatitis, developmental delay, failure to thrive; 3y-quadriplegic cerebral palsy, moderate axial hypotonia, frequent purposeless movements, mild spasticity distal lower extremities; no speech, vocalized with no words; unable to follow commands; MRI brain normal, qualitative diffusion tensor imaging; 6y-not sitting, severe movement disorder 1 1 Johan den Dunnen
00457942 FamPatIV3 PubMed: Abdulkareem 2023 brother M yes Saudi Arabia - - - - - NDD see paper; ..., 9m-developmental delay, unable to sit/roll/crawl; 6y-MRI brain normal; 2y-started pulling to stand, cruising on furniture; no speech, babbling/gestures; EEG multifocal bilateral sharps with seizures; able to self-feed; growthweight/height <1st percentile 1 1 Johan den Dunnen
00457943 FamPat2 PubMed: Watanabe 2023 sister F no Japan China - - - - SPDRS 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 2 1 Johan den Dunnen
00457944 family PubMed: Gordon-Lipkin 2018 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - United States - - - - - ID intellectual disability (3/3), developmental delay (3/3), no neurodevelopmental deterioration, no speech (3/3), choreoathetosis (3/3), mixed tone, able to walk (1/3), no epilepsy, EEG abnormal (3/3), sensorineural hearing impairment (3/3), vision impairment (3/3), microcephaly (3/3), failure to thrive (3/3), gastrostomy tube dependence (2/3), feeds by mouth (2/3), skin pigment changes (2/3), severe atopic dermatitis/ichthyosis (2/3), sleep disturbance (2/3), self-injurious behavior (3/3),; normal prenatal/birth history (3/3), normal birth parameters 1 3 Johan den Dunnen
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