All individuals with variants in gene MN1

39 entries on 1 page. Showing entries 1 - 39.
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00274237 Fam1Pat PubMed: Miyake 2020, Journal: Miyake 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - ? height 102.5 cm (-2 SD); weight 15.1 kg (-1.8 SD); OFC 50.7 cm (-0.2 SD); severe developmental delay; speech impairment; febrile convulsions; dolichocephaly; characteristic face; prominent forehead; flat face; thick eyebrow; high, arched eyebrow; widely spaced eyes; posteriorly rotated ears; low-set ears; depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate (narrow palate); no hypotonia; feeding difficulty; hyperphagia; MRI brain normal (6y4m) 1 1 Johan den Dunnen
00274238 Fam2Pat PubMed: Miyake 2020, Journal: Miyake 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - ? height 100 cm (-1 SD); weight 15.7 kg (mean); OFC 54 cm (+ SD); severe developmental delay; speech impairment; no epilepsy; dolichocephaly; characteristic face; prominent forehead; flat face; thick eyebrow; no high, arched eyebrow; widely spaced eyes; no posteriorly rotated ears; low-set ears; no depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate; hypotonia; feeding difficulty; hyperphagia; MRI brain polymicrogyria, vermis dysplasia 1 1 Johan den Dunnen
00274239 Fam3Pat PubMed: Miyake 2020, Journal: Miyake 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - ? height 151.2 cm (-1.3 SD); weight 50.4 kg (-0.3 SD); OFC 56.0 cm; severe developmental delay; speech impairment; no epilepsy; platystencephaly; characteristic face; no prominent forehead; flat face; thick eyebrow; high, arched eyebrow; widely spaced eyes; posteriorly rotated ears; low-set ears; depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate (high arched palate); hypotonia; no feeding difficulty; hyperphagia; MRI brain polymicrogyria 1 1 Johan den Dunnen
00274248 Pat1 PubMed: Mak 2020 - M - Iran;Morocco Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00274249 Pat2 PubMed: Mak 2020 - F - - Eurasian - - - - ? see paper; ... 1 1 Johan den Dunnen
00274250 Pat3 PubMed: Mak 2020 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274251 Pat4 PubMed: Mak 2020 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274252 Pat5 PubMed: Mak 2020 3-generation family, affected father/2 sons F - Jordan - - - - - ? see paper; ... 1 3 Johan den Dunnen
00274253 Pat6 PubMed: Mak 2020 brother Pat5 M - Jordan - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274254 Pat7 PubMed: Mak 2020 father Pat5/6 M - Jordan - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274255 Pat8 PubMed: Mak 2020 - F - - Middle Eastern - - - - ? see paper; ... 1 1 Johan den Dunnen
00274256 Pat9 PubMed: Mak 2020 - M - - East Asian - - - - ? see paper; ... 1 1 Johan den Dunnen
00274257 Pat10 PubMed: Mak 2020 - F - China Han - - - - ? see paper; ... 1 1 Johan den Dunnen
00274258 Pat11 PubMed: Mak 2020 - M - - Europe - - - - ? see paper; ... 1 1 Johan den Dunnen
00274259 Pat12 PubMed: Mak 2020 - M - Netherlands;Norway - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274260 Pat13 PubMed: Mak 2020, PubMed: Rossi 2017 - M - Germany;Poland;India Asian, East Indian - - - - ? see paper; ... 1 1 Johan den Dunnen
00274261 Pat14 PubMed: Mak 2020 - M - Belgium;Germany;United Kingdom (Great Britain) - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274262 Pat15 PubMed: Mak 2020 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274263 Pat16/DDD4K.03983 PubMed: Mak 2020, PubMed: DDDS 2017 - F - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274264 Pat17 PubMed: Mak 2020 - M - United States white;Hispanic - - - - ? see paper; ... 1 1 Johan den Dunnen
00274265 Pat18 PubMed: Mak 2020 - F - - Hispanic - - - - ? see paper; ... 1 1 Johan den Dunnen
00274266 Pat19/DDD4K.04150 PubMed: Mak 2020, PubMed: DDDS 2017 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274267 Pat20 PubMed: Mak 2020 - F - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274268 Pat21/Pat7 PubMed: Mak 2020, PubMed: Tully 201 - F - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274269 Pat22 PubMed: Mak 2020 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274270 Pat23 PubMed: Mak 2020 - F - United States Hispanic - - - - ? see paper; ... 1 1 Johan den Dunnen
00274271 Pat24 PubMed: Mak 2020 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00274272 Pat25 PubMed: Mak 2020 - M - - white;white/Puerto Rico - - - - ? see paper; ... 1 1 Johan den Dunnen
00274273 Pat26/DECIPHER 318239 PubMed: Mak 2020 - M - Netherlands;Turkey - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274274 Pat27 PubMed: Mak 2020 - F - Germany - - - - - ? see paper; ... 1 1 Johan den Dunnen
00274275 Pat28/Ind7807/DECIPHER 999 PubMed: Mak 2020, PubMed: Friedman 2006, PubMed: Friedman 2009 - M - - South Asian, Muslim - - - - ? see paper; ... 1 1 Johan den Dunnen
00274353 Fam6PatIII9 PubMed: Johansen 2016 - M yes Pakistan - - - - - ? head control-1y, sit-5y, walk-7y; no speech; no seizures; head circumference -2SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00299431 - - - F no Spain - - - - - MN Neurodevelopmental disorders with craniofacial anomalies 1 1 Carmen Palma
00303078 Pat120 PubMed: Helbig 2016 - - - United States - - - - - seizures Generalized epilepsy, unclassified; age onset unknown 1 1 Johan den Dunnen
00324140 172931 - - M - Germany - - - - - NDD (+) Low-set ears,(+) Delayed speech and language development,(+) Seizure,(+) Abnormal facial shape 1 1 Andreas Laner
00380223 183091 - - F no Germany - - - - - CEBALID Abnormality of the head, Microcephaly, Abnormality of the face, Abnormality of the outer ear, Behavioral abnormality, Global developmental delay, Sleep disturbance, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Abnormal ear morphology, Decreased head circumference 1 1 Andreas Laner
00391502 184511 - - M no Germany - - - - - CEBALID Muscular hypotonia, Global developmental delay, Motor delay, Abnormality of the nasal bridge, Wide nasal bridge, Prominent forehead, Abnormal eyelid morphology, Low-set ears, Thin upper lip vermilion, Edema, Edema of the dorsum of hands, Anteverted nares, Abnormality of earlobe 1 1 Andreas Laner
00444503 Pat5 PubMed: Riquin 2023 patient M - France - - - - - NDD Postnatal growth delay (-2.5 SD), microcephaly (-3 SD), global developmental delay, facial dysmorphism, cryptorchidism, inguinal hernia, laryngomalacia, Turricephaly, unilateral pachygyria, patent sagittal suture 1 1 Johan den Dunnen
00466175 - - - F - Brazil - - - - - CEBALID - 1 1 Juliana Mazzeu
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