IllnessMikrozephalie mit Lissenzephalie, dünner Kortex

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + lissencephaly (thin cortex) comprising 2 guideline-curated and another curated gene

MP1222

Number of genes

2 Accredited laboratory test

Examined sequence length

10,4 kb (Core-/Core-canditate-Genes)
11,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
RELN	10383	600514	NM_005045.4	AR
NDE1	1008	609449	NM_001143979.2	AR

Informations about the disease

Clinical Comment

ORPHA452: X-linked lissencephaly with abnormal genitalia

ORPHA89844: Lissencephaly syndrome, Norman-Roberts type: lissencephaly type I with craniofacial anomalies (severe microcephaly, low sloping forehead, broad, prominent nasal bridge, widely set eyes), postnatal growth retardation

Synonyms

Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
Allelic: Hydranencephaly with abnormal genitalia (ARX)
Allelic: Mental retardation, X-linked 29 + others (ARX)
Allelic: Microhydranencephaly (NDE1)
Allelic: Partington syndrome (ARX)
Allelic: Proud syndrome (ARX)
Epilepsy, familial temporal lobe, 7 (RELN)
Lissencephaly 2, Norman-Roberts type (RELN)
Lissencephaly 4, with microcephaly (NDE1)
Lissencephaly, X-linked 2 (ARX)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q02

Bioinformatics and clinical interpretation

No text defined