MCID: NRD056
MIFTS: 14

Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

MalaCards integrated aliases for Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities:

Name: Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 58 6
Nedxcf 58

Characteristics:

OMIM:

58
Miscellaneous:
variable phenotype
manifestations may differ between female and male patients

Inheritance:
x-linked


Classifications:



External Ids:

OMIM 58 301022

Summaries for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

OMIM : 58 X-linked neurodevelopmental disorder with craniofacial abnormalities is characterized by global developmental delay with impaired intellectual development and poor speech. Ear abnormalities and hearing loss are common, as are dysmorphic facial features such as microcephaly and cleft palate. Other features may include short stature, scoliosis, vertebral abnormalities, and mild limb abnormalities such as fifth finger clinodactyly. Clinical manifestations depend on the type of mutation: female carriers with missense mutations may be unaffected, and conversely, males with nonsense or truncating mutations may have a severe phenotype with early death (summary by Aoi et al., 2019). (301022)

MalaCards based summary : Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities, is also known as nedxcf. An important gene associated with Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities is STAG2 (Stromal Antigen 2). Affiliated tissues include bone, eye and heart.

Related Diseases for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Symptoms & Phenotypes for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
microtia
preauricular pit
dysmorphic ears
preauricular tag
more
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
global developmental delay
unsteady gait
delayed walking
impaired intellectual development
speech and language delay
more
Skeletal Feet:
pes planus
polydactyly

Growth Height:
short stature

Skin Nails Hair Hair:
low anterior hairline
high anterior hairline
frontal baldness (in males)

Skeletal Hands:
fifth finger clinodactyly

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder (in some patients)

Head And Neck Head:
frontal bossing
microcephaly
sloping forehead

Skeletal Spine:
scoliosis
vertebral body abnormalities

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip
large nose

Head And Neck Face:
smooth philtrum
full cheeks
long philtrum
micrognathia
short philtrum
more
Head And Neck Mouth:
cleft palate
cleft lip
thin upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
long curly eyelashes
prominent eyes
small eyes

Cardiovascular Heart:
septal defects (in some patients)
hypoplastic left heart (in some patients)
coarctation of the aorta (in some patients)

Clinical features from OMIM:

301022

Drugs & Therapeutics for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities

Genetic Tests for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Anatomical Context for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

MalaCards organs/tissues related to Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities:

42
Bone, Eye, Heart

Publications for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Variations for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

ClinVar genetic disease variations for Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAG2 NM_006603.4(STAG2): c.476A> G (p.Tyr159Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 123179027: 123179027
2 STAG2 NM_006603.4(STAG2): c.476A> G (p.Tyr159Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 124045177: 124045177
3 STAG2 NM_006603.4(STAG2): c.1605T> A (p.Cys535Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 123195691: 123195691
4 STAG2 NM_006603.4(STAG2): c.1605T> A (p.Cys535Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 124061841: 124061841
5 STAG2 NM_006603.4(STAG2): c.1811G> A (p.Arg604Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123197045: 123197045
6 STAG2 NM_006603.4(STAG2): c.1811G> A (p.Arg604Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 124063195: 124063195
7 STAG2 NM_001042749.2(STAG2): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123164892: 123164892
8 STAG2 NM_001042749.2(STAG2): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124031042: 124031042
9 STAG2 NM_001042749.2(STAG2): c.980G> A (p.Ser327Asn) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123184122: 123184122
10 STAG2 NM_001042749.2(STAG2): c.980G> A (p.Ser327Asn) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124050272: 124050272
11 STAG2 NM_001042749.2(STAG2): c.3027A> T (p.Lys1009Asn) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124083523: 124083523
12 STAG2 NM_001042749.2(STAG2): c.3027A> T (p.Lys1009Asn) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123217373: 123217373
13 STAG2 NM_001042749.2(STAG2): c.2229G> A (p.Trp743Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123200250: 123200250
14 STAG2 NM_001042749.2(STAG2): c.2229G> A (p.Trp743Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124066400: 124066400
15 STAG2 NM_001042749.2(STAG2): c.3097C> T (p.Arg1033Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124086590: 124086590
16 STAG2 NM_001042749.2(STAG2): c.3097C> T (p.Arg1033Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123220440: 123220440

Expression for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Search GEO for disease gene expression data for Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities.

Pathways for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

GO Terms for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

Sources for Neurodevelopmental Disorder, X-Linked, with Craniofacial...

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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