Disease #05346 (SEMD (dysplasia, spondyloepimetaphyseal (SEMD)))

Official abbreviation SEMD
Name dysplasia, spondyloepimetaphyseal (SEMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 37
Phenotype entries for this disease 36
Associated with 1 gene RPL13
Associated tissues -
Disease features -
Remarks -
Date created 2017-11-17 14:28:27 +01:00 (CET)
Date last edited N/A


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00230542 - - - - - - - - - - - SEMD - MATN3 MATN3 1 1 Michael Briggs
00266391 Fam1Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand RPL13 RPL13 1 1 Johan den Dunnen
00266392 Fam2Patt1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand RPL13 RPL13 1 1 Johan den Dunnen
00266393 Fam3Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; upper limbs epiphyseal changes; coxa vara; no short phalanges hand RPL13 RPL13 1 1 Johan den Dunnen
00266394 Fam4Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - SEMD no short prenatal length (<2SD); mild short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand RPL13 RPL13 1 1 Johan den Dunnen
00267050 PK-ST-KP-08 V:18 - - M yes Pakistan Asian 15y - - No SEMD Short stature, bowed legs and waddling gait MATN3 MATN3 1 6 Samina Yasin
00359408 Pat6 PubMed: Silveira 2021, Journal: Silveira 2021 - M yes Brazil - - - - - SEMD see paper; ... - KIAA0753 1 1 Maria Dora Jazmin Lacarrubba-Flores
00375201 - - 2-generation family, 2 affected (the proband and her sister) and unaffected heterozygous carrier parents. F no China Chinese - - - - SEMD Short stature PAPSS2 PAPSS2 1 2 Xiuli Zhao
00410735 - - - - yes Pakistan - - - - - SEMD - CHST3 CHST3 1 1 Noor-ul-ain Ain
00431167 Fam1PatD1 PubMed: Varshney 2023 4-generation family, affected brother/sister, first cousin parents M yes India - - - - - SEMD - - DYM 1 2 Johan den Dunnen
00431168 Fam1PatD2 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431169 Fam2PatD3 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431170 Fam3PatD4 PubMed: Varshney 2023 2-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431171 Fam4PatD5 PubMed: Varshney 2023 4-generation family, 1 affected, uncle/niece parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431172 Fam6PatD7 PubMed: Varshney 2023 4-generation family, affected sisters, first cousin parents F yes India - - - - - SEMD - - DYM 1 2 Johan den Dunnen
00431173 Fam6PatD8 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431174 Fam7PatD9 PubMed: Varshney 2023 5-generation family, 1 affected, first cousin parents F yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431175 Fam8PatD10 PubMed: Varshney 2023 2-generation family, affected brother/sister, first cousin parents M yes India - - - - - SEMD - - DYM 1 2 Johan den Dunnen
00431176 Fam8PatD11 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431177 Fam9PatD12 PubMed: Varshney 2023 2-generation family, 1 affected, unaffected parents M no India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431178 Fam10PatD13 PubMed: Varshney 2023 4-generation family, 1 affected, uncle/niece parents F yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431179 Fam11PatD14 PubMed: Varshney 2023 2-generation family, 1 affected, unaffected parents M no India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431180 Fam12PatD15 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431181 Fam13PatD16 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431182 Fam14PatD17 PubMed: Varshney 2023 4-generation family, affected sister/brother, first cousin parents F yes India - - - - - SEMD - - RAB33B 1 2 Johan den Dunnen
00431183 Fam14PatD18 PubMed: Varshney 2023 brother M yes India - - - - - SEMD - - RAB33B 1 1 Johan den Dunnen
00431184 Fam15PatD19 PubMed: Varshney 2023 4-generation family, 2 affected sisters, first cousin parents F yes India - - - - - SEMD - - RAB33B 1 2 Johan den Dunnen
00431185 Fam15PatD20 PubMed: Varshney 2023 sister F yes India - - - - - SEMD - - RAB33B 1 1 Johan den Dunnen
00431186 Fam16PatD21 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents F yes India - - - - - SEMD - - RAB33B 1 1 Johan den Dunnen
00431187 Fam17PatD22 PubMed: Varshney 2023 2-generation family, 1 affected, unaffected parents F no India - - - - - SEMD - - RAB33B 2 1 Johan den Dunnen
00431188 Fam18PatD23 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00431189 Fam19PatD24 PubMed: Varshney 2023 4-generation family, 1 affected, first cousin parents M yes India - - - - - SEMD - - DYM 1 1 Johan den Dunnen
00436112 Fam1Pat1A PubMed: Guo 2023 2-generation family, affected sister/brother, unaffected non-carrier parents F no - - - - - - SEMD see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 24kg (-5 SD), length 112cm (-8 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay - ERI1 2 2 Johan den Dunnen
00436113 Fam1Pat1B PubMed: Guo 2023 brother M no - - - - - - SEMD see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 26kg (-5 SD), length 128cm (-7 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay - ERI1 2 1 Johan den Dunnen
00436114 FamPat2 PubMed: Guo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - 3m15d - - - SEMD see paper; ..., 3m15d-died; fetal ultrasound short limbs, birth at term, weight 2180g (-3.2 SD), length 40cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly - ERI1 2 1 Johan den Dunnen
00436115 FamPat3 PubMed: Guo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no - - 3m15d - - - SEMD see paper; ..., 3m15d-died; birth at term, weight 2,000g (-3.3 SD), length 41.7cm (-4.3 SD); weight 3.3kg (- 4 SD), length 50.3cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; no hydronephrosis - ERI1 2 1 Johan den Dunnen
00436116 FamPat4 PubMed: Guo 2023 2-generation family, 1 affected M no - - 2y - - - SEMD see paper; ..., 2y-died; fetal ultrasound severe intra-uterine growth retardation, birth premature; failure to thrive, short stature; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; hydronephrosis; delayed motor milestones and speech, generalized hypotonia - ERI1 2 1 Johan den Dunnen
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