Psychomotor impairment

Psychomotor retardation comprises a slowing down of thought and a reduction of physical movements in an individual. Psychomotor retardation can cause a visible slowing of physical and emotional reactions including speech and affect.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem spinocerebellar ataxia autosomal recessive type 1 AOA2
SCAR1
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
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)
607250 spinocerebellar ataxia with axonal neuropathy (SCAN1) TDP1 psychomotor impairment, neurodegenerative disease SCAN1 base excision repair (BER)
613662 mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B POLγ (POLG) psychomotor impairment, eye or vision problem mitochondrial DNA depletion syndrome type 4A
mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related
DNA replication
208920 early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1) APTX neurodegenerative disease, psychomotor impairment, NO CANCER development, eye or vision problem, immunodeficiency ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ataxia-oculomotor apraxia 1
EAOH
AOA
AOA1

EOCA-HA
EAOH/AOA1
607459 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) POLγ (POLG) psychomotor impairment, neurodegenerative disease, eye or vision problem sensory ataxic neuropathy dysarthria and ophthalmoparesis SANDO
SCAE
DNA replication
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)
610333 Aicardi-Goutieres syndrome 4 (AGS4) RNASEH2A psychomotor impairment, microcephaly, mental retardation (MR) AGS4 syndrome AGS4 DNA replication
611943 RIDDLE syndrome RNF168 mental retardation (MR), psychomotor impairment, sensitivity to radiation, facial anomalies, immunodeficiency RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES RIDDLE
607136 spinocerebellar ataxia type 17 (SCA17) TBP psychomotor impairment, eye or vision problem cerebellar ataxia 17 SCA17 transcription factors

Last modification date: July 1, 2011