ORPHA:199642

Isolated congenital microcephaly

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated congenital microcephaly
fr	Microcéphalie congénitale isolée
de	Mikrozephalie, isolierte kongenitale
es	Microcefalia congénita aislada
it	Microcefalia congenita isolata
nl	Geïsoleerde congenitale microcefalie
pt	Microencefalia
pl	Izolowana wrodzona mikrocefalia
cs	Izolovaná vrozená mikrocefalie
uk	Ізольована вроджена мікроцефалія
zh	孤立性先天性小头畸形
tr	İzole doğumsal mikrosefali

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q02	NTBT	attributed	validated
MONDO	0016056	E		validated
UMLS	C0025958	E		validated
GARD	3603	E		validated
MedDRA	10027534	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:269553Genetic cerebral malformation
rare genetic diseases
ORPHA:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases

Children (2):

Genes

0 direct · 31 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DPP6	ORPHA:2514Autosomal dominant primary microcephaly	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3010	ENSG00000130226	126141	7q36.2	dipeptidyl peptidase like 6	23832105[PMID]
MFSD2A	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25897	ENSG00000168389	614397	1p34.2	MFSD2 lysolipid transporter A, lysophospholipid	26005865[PMID]_26005868[PMID]
ANKLE2	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:29101	ENSG00000176915	616062	12q24.33	ankyrin repeat and LEM domain containing 2	25259927[PMID]
ASPM	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:19048	ENSG00000066279	605481	1q31.3	assembly factor for spindle microtubules
CDK5RAP2	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:18672	ENSG00000136861	608201	9q33.2	CDK5 regulatory subunit associated protein 2
CDK6	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:1777	ENSG00000105810	603368	7q21.2	cyclin dependent kinase 6	23918663[PMID]
CENPE	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:1856	ENSG00000138778	117143	4q24	centromere protein E	24748105[PMID]
CEP135	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:29086	ENSG00000174799	611423	4q12	centrosomal protein 135
CEP152	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:29298	ENSG00000103995	613529	15q21.1	centrosomal protein 152
CIT	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:1985	ENSG00000122966	605629	12q24.23	citron rho-interacting serine/threonine kinase	27453578[PMID]
COPB2	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:2232	ENSG00000184432	606990	3q23	coat protein complex I subunit beta 2	29036432[PMID]
CPAP	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:17272	ENSG00000151849	609279	13q12.12-q12.13	centrosome assembly and centriole elongation protein
KIF14	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:19181	ENSG00000118193	611279	1q32.1	kinesin family member 14	28892560[PMID]
KNL1	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:24054	ENSG00000137812	609173	15q15.1	kinetochore scaffold 1
LMNB1	ORPHA:2514Autosomal dominant primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:6637	ENSG00000113368	150340	5q23.2	lamin B1	32910914[PMID]
MCM7	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:6950	ENSG00000166508	600592	7q22.1	minichromosome maintenance complex component 7	34059554[PMID]
MCPH1	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:6954	ENSG00000147316	607117	8p23.1	microcephalin 1
METTL5	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:25006	ENSG00000138382	618628	2q31.1	methyltransferase 5, N6-adenosine	31564433[PMID]
NCAPD3	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:28952	ENSG00000151503	609276	11q25	non-SMC condensin II complex subunit D3	27737959[PMID]
NUP37	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:29929	ENSG00000075188	609264	12q23.2	nucleoporin 37	30179222[PMID]
PDCD6IP	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:8766	ENSG00000170248	608074	3p22.3	programmed cell death 6 interacting protein	32286682[PMID]
PHC1	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:3182	ENSG00000111752	602978	12p13.31	polyhomeotic homolog 1
PYCR2	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:30262	ENSG00000143811	616406	1q42.12	pyrroline-5-carboxylate reductase 2	27860360[PMID]
SARS1	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:10537	ENSG00000031698	607529	1p13.3	seryl-tRNA synthetase 1	35790048[PMID]
SASS6	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:25403	ENSG00000156876	609321	1p21.2	SAS-6 centriolar assembly protein	24951542[PMID]
STIL	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:10879	ENSG00000123473	181590	1p33	STIL centriolar assembly protein
TAF13	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:11546	ENSG00000197780	600774	1p13.3	TATA-box binding protein associated factor 13	28257693[PMID]
TRAPPC10	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:11868	ENSG00000160218	602103	21q22.3	trafficking protein particle complex subunit 10	35298461[PMID]
TRAPPC14	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:25604	ENSG00000146826	618350	7q22.1	trafficking protein particle complex subunit 14	30715179[PMID]
WARS1	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:12729	ENSG00000140105	191050	14q32.2	tryptophanyl-tRNA synthetase 1	35790048[PMID]
WDR62	ORPHA:2512Autosomal recessive primary microcephaly	Disease-causing germline mutation(s) in	Assessed	HGNC:24502	ENSG00000075702	613583	19q13.12	WD repeat domain 62

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/199642
This record as JSON: /data/d/199642.json