Disease #05153 (MCPH (microcephaly, primary, autosomal recessive (MCPH)))

Official abbreviation MCPH
Name microcephaly, primary, autosomal recessive (MCPH)
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 4 genes CEP152, MCPH1, MFSD2A, WDFY3
Associated tissues -
Disease features -
Remarks -
Date created 2016-04-14 15:50:58 +02:00 (CEST)
Date last edited 2016-07-05 08:24:40 +02:00 (CEST)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00074397 25865492-Fam1PatMR901 PubMed: Nakayama 2015, Journal: Nakayama 2015 2-generation family, affected brother/sister, PatMR901 M yes Oman - >11y - - - MCPH Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), down-slanting eyes (HP:0000494), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), exotropia (HP:0000577), undescended testicles (HP:?), type 1 diabetes (HP:0100651), gastrostomy tube (HP:0011471), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), thin brain stem (HP:0002365) PYCR2 PYCR2 1 2 Jamie Zeegers
00074398 25865492-Fam1PatMR902 PubMed: Nakayama 2015, Journal: Nakayama 2015 PatMR902 F yes Oman - >10y - - - MCPH Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), poor dentition (HP:0000696), malformed teeth (HP:0006482), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365) PYCR2 PYCR2 1 1 Jamie Zeegers
00074399 25865492-Fam2PatMC27801 PubMed: Nakayama 2015, Journal: Nakayama 2015 2-generation family, 2 affected sisters, PatMC27801 F yes Palestine - >09y - - - MCPH no decreased head circumference at birth (-HP:0011451), Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), limited range of motion of the hips and knees (HP:?), hyperextensibility of wrists (HP:0005072) and ankles (HP:?), brisk deep tendon reflex (HP:0006801), up-slanting eyes (HP:0000582), bulbous nasal tip (HP:0000414), protuberant ears (HP:?) with hypoplastic antihelix (HP:0009739), large atrial septal defect (HP:0011643), gastrostomy tube (HP:0011471), white-matter volume markedly diminished (HP:?), very thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365) PYCR2 PYCR2 1 2 Jamie Zeegers
00074400 25865492-Fam2PatMC27802 PubMed: Nakayama 2015, Journal: Nakayama 2015 PatMC27802 F yes Palestine - >07y - - - MCPH decreased head circumference present at birth (HP:0011451), Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hyperextensibility of the wrists (HP:0005072) and ankles (HP:?), brisk deep tendon reflex (HP:0006801), down-slanting eyes (HP:0000494), blunted nasal tip (HP:?), prominent jaw (HP:0000303), white-matter volume markedly diminished (HP:?), very thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365) PYCR2 PYCR2 1 1 Jamie Zeegers
00181109 24128419-Fam PubMed: Filges 2014 2-generation family, 2 affected fetuses (2F), unaffected heterozygous carrier parents F ? - - - - - - MCPH Meckel-syndrome 12 Renal agenesis (HP:0000104), Cerebral hypoplasia (HP:0006872), Cerebellar hypoplasia (HP:0001321), Occipital lobe agenesis, Ureteral agenesis (HP:0012300), Hypoplasia of the uterus (HP:0000013) KIF14 KIF14 2 2 Isabel Filges
00396962 family PubMed: Abe 2015 3-generation family, 10 affected (3F, 7M) F;M yes Pakistan - - - - - MCPH see paper; ..., OFC </= -3 SDS; global developmental delay; no/limited (10/10); severe intellectual disability (10/10); autism spectrum disorder (10/10); appendicular spasticity (3/10); no seizures; MRI WM thinning with ventricular dilatation - MFSD2A 1 10 Johan den Dunnen
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly - ABCG5, ASPM, CCDC82, CEP164, CR2, DDX27, DNAH6, DSCAML1, FADS6, FREM3, GPR125, GPRIN2, KIR2DS4, KRT4, MOCS3, MRPS9, MUC13, NEURL3, NPIPB4, RNF19B, SLAIN1, STX17, TMEM131, TPTE, TTC31, ZNF469 28 1 Johan den Dunnen
00458137 family PubMed: Kadir 2016 3-generation family, 10 affected (5F, 5M) F;M no Israel - - - - - MCPH see paper; ..., primary microcephaly, OFC SD<3; mild-moderate intellectual disability; no dysmorphic features, no ocular malformations, no failure to thrive - WDFY3 1 10 Johan den Dunnen
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