Growth retardation

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
613398 Warsaw breakage syndrome (WBRS) helicase DDX11 (CHLR1) microcephaly, skin problem, chromosomal instability, facial anomalies, growth retardation, deafness (hearing impairment) WBR syndrome
WBRS syndrome
WBRS DNA replication
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS syndrome 1
Pena-Shokeir syndrome type 2
COFS1 nucleotide excision repair (NER)
606593 LIG4 syndrome LIG4 mental retardation (MR), psychomotor impairment, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sensitivity to radiation, facial anomalies, growth retardation, microcephaly LIG4S
LIG4
non-homologous end-joining (NHEJ)
278800 De Sanctis-Cacchione syndrome (DSC) ERCC6 (CSB) growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS), mental retardation (MR) xerodermic idiocy DSC nucleotide excision repair (NER)
210600 Seckel syndrome 1 (SCKL1) ATR microcephaly, mental retardation (MR), facial anomalies, growth retardation BIRD-HEADED DWARFISM
SECKEL-TYPE DWARFISM
NANOCEPHALIC DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I
SCKL1
SCKL
Fanconi anemia (FA) pathway, DNA damage response (DDR)
251260 Nijmegen breakage syndrome (NBS) NBN (NBS1) microcephaly, risk of malignant disease, chromosomal instability, sensitivity to radiation, growth retardation, immunodeficiency ATAXIA-TELANGIECTASIA VARIANT V1
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
SEEMANOVA SYNDROME II
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
BERLIN BREAKAGE SYNDROME
ATAXIA-TELANGIECTASIA VARIANT V2
NBS
AT-V1
BBS
AT-V2
homologous recombination (HR)
612938 growth retardation, developmental delay, coarse facies, and early death (GDFD) FTO mental retardation (MR), skeletal abnormalities, sexual immaturity, facial anomalies, growth retardation GDFD syndrome GDFD
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
610756 cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) ERCC2 (XPD) neurodegenerative disease, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS2 syndrome COFS2 nucleotide excision repair (NER), transcription factors
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)
611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID) NHEJ1 (Cernunnos) microcephaly, neurodegenerative disease, skeletal abnormalities, sensitivity to radiation, growth retardation, immunodeficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHEJ1-SCID non-homologous end-joining (NHEJ)
613078 Nijmegen breakage syndrome-like disorder (NBSLD) RAD50 microcephaly, chromosomal instability, sensitivity to radiation, facial anomalies, growth retardation NBS-like disorder
RAD50 deficiency
NBSLD homologous recombination (HR), non-homologous end-joining (NHEJ)

Last modification date: July 30, 2011