Disease #00157

Official abbreviation NCBRS
Name Nicolaides-Baraitser syndrome (NCBRS)
OMIM ID 601358
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 93
Phenotype entries for this disease 61
Associated with 1 gene SMARCA2
Associated tissues -
Disease features -
Remarks -


Individuals

93 entries on 1 page. Showing entries 1 - 93.
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00001508 - - - F - - - - - - - NCBRS brith 38w, weight SD -2.5, OFC 30 cm; villous atrophy on intestinal biopsy (7m) with no celiac disease antibodies; MRI-brain TAC reported as normal; myopia 2D (HP:0000545); generalized hypotonia; feeding problems 6m; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small nails (-HP:0001792); no delayed bone age (-HP:0003799); prominent distal phalanges;; joint laxity (HP:0001388); villous atrophy; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); myopia (HP:0000545); ARID1B, SMARCA2 SMARCA2 1 1 Gijs Santen
00001515 - - - F - - - - - - - NCBRS brith 40w, weight SD -1.8, OFC 34 cm; advanced paternal age IVF pregnancy; seizures low frequency; generalized hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); mild intellectual disability; sparse scalp hair (HP:0002209); abnormal eyebrow (HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); corpus callosum agenesis (HP:0001274); myopia (HP:0000545); ARID1B, SMARCA2 SMARCA2 3 1 Gijs Santen
00001544 - - - M - - - - - - - NCBRS brith post term, weight SD 1; hair microscopy normal,Rarely sweats,Never had nails cut.,Reduced subcutaneous fat,Fetal pads,Long toes with bulbous tips,Coarse face; MRI-brain Increased perivascular spaces; seizures, initially just loss of consciousness, 2y6m 1st generalised tonic-clonic seizure; seizures onset 2y, 1 per 2m; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250), generalized tonic-clonic seizures (HP:0002069); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; active, tries to escape, erratic, no sense of danger, 8y-eating excessively, sleeps little, 10y-obsessive, does not like clothes; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); diarrhoea,umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no agenesis corpus callosum (-HP:0001274); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1A, ARID1B, SMARCA2, SMARCA4 14 1 Gijs Santen
00001545 - - - F - - - - - - - NCBRS brith 38w, weight SD -2.3, OFC 31.8 cm (9th centile); Hair microscopy normal, short anagen cycle,Sensitive to the sun. reduced sweating. Overheats.,Skin biopsy normal ie not cockayne,Reduced subcutaneous fat,Family history of x-linked ichthyosis,STS normal,Fetal pads on feet,Long fingers and toes,Red palms,Coarse face,EEG normal / west syndrome; one fused canine; MRI-brain Normal / reduced white matter / immature myelin; seizures onset 9m; generalized tonic-clonic seizures (HP:0002069); severe speech delay (HP:0000750); moderate intellectual disability; stubborn; anteverted nares (HP:0000463); wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156);; no hypoplastic phalanges fingers/toes; constipation; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483); ARID1B, SMARCA4, SMARCB1 SMARCA2 1 1 Gijs Santen
00047976 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047977 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047978 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047979 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047980 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047981 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047982 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047983 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047984 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047985 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047986 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047987 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047988 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047989 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047990 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047991 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047992 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047993 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047994 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047995 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047996 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047997 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047998 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00047999 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00048000 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00048001 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00048002 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00048003 - - - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 SIB - Livia Famiglietti
00174119 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174120 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174121 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174122 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174123 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174124 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174125 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174126 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174127 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174128 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174129 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174130 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174131 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174132 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174133 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174134 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174135 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174136 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174137 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174138 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174139 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174140 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174141 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174142 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174143 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174144 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174145 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174146 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174147 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174148 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174149 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174150 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174151 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174152 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174153 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174154 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174155 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174156 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174157 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174158 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174159 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174160 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174161 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174162 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174163 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174164 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174165 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174166 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174167 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174168 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174169 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174170 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174171 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174172 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174173 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174174 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174175 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174176 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174177 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174178 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
00174179 - PubMed: Sousa SB 2014 - - - - - - 0 - - NCBRS - SMARCA2 SMARCA2 1 1 Julia Lopez
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