Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly. In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

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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
610181 Aicardi-Goutieres syndrome type 2 (AGS2) RNASEH2B microcephaly, mental retardation (MR) AGS2 syndrome AGS2 DNA replication
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)
312750 Rett syndrome (RTT) MECP2 microcephaly, mental retardation (MR) AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED
RETT SYNDROME, ATYPICAL, INCLUDED
RTT heterochromatin formation
610329 Aicardi-Goutieres syndrome type 3 (AGS3) RNASEH2C microcephaly, mental retardation (MR) AGS3 syndrome AGS3 DNA replication
613402 microcephaly seizures and development delay (MCSZ) PNKP (PNK) neurodegenerative disease, microcephaly, mental retardation (MR) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 MCSZ
EIEE10
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB 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)
610333 Aicardi-Goutieres syndrome 4 (AGS4) RNASEH2A psychomotor impairment, microcephaly, mental retardation (MR) AGS4 syndrome AGS4 DNA replication
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)
225750 Aicardi-Goutieres syndrome 1 (AGS1) TREX1 (DNase III) microcephaly, neurodegenerative disease, mental retardation (MR), skin problem, immunodeficiency AGS1 syndrome
AGS syndrome
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
cree encephalitis
pseudotoxoplasmosis syndrome
Aicardi-Goutieres syndrome 1, autosomal dominant, included
AGS1
AGS
Fanconi anemia (FA) pathway
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)
610965 XFE progeroid syndrome (XFEPS) ERCC4 (XPF) microcephaly XPF-ERCC1 PROGEROID SYNDROME XFEPS Fanconi anemia (FA) pathway, 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