IDDSFAS
MCID: INT343
MIFTS: 14

Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects (IDDSFAS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Short Stature, Facial...

MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

Name: Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 58
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 58 6
Iddsfas 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skeletal manifestations were only observed in 1 family (family a)
three unrelated families have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 606220
MedGen 43 C1853507

Summaries for Intellectual Developmental Disorder with Short Stature, Facial...

MalaCards based summary : Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects, is also known as mental retardation, short stature, facial anomalies, and joint dislocations. An important gene associated with Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects is FBXL3 (F-Box And Leucine Rich Repeat Protein 3).

Description from OMIM: 606220

Related Diseases for Intellectual Developmental Disorder with Short Stature, Facial...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Short Stature, Facial...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
strabismus

Growth Height:
short stature

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

Head And Neck Head:
microcephaly (1 patient)

Skeletal:
joint laxity (family a)

Skeletal Limbs:
joint dislocations (family a)
short distal ends of ulnae (family a)

Neurologic Behavioral Psychiatric Manifestations:
shy behavior
odd behavior

Neurologic Central Nervous System:
dysarthria
global developmental delay
poor speech
delayed walking
delayed speech
more
Head And Neck Face:
microretrognathia

Head And Neck Mouth:
high-arched palate

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicles (family a)

Skeletal Skull:
widened mandibular angles (family a)

Skeletal Hands:
short fourth metacarpals (family a)

Clinical features from OMIM:

606220

Drugs & Therapeutics for Intellectual Developmental Disorder with Short Stature, Facial...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects

Genetic Tests for Intellectual Developmental Disorder with Short Stature, Facial...

Anatomical Context for Intellectual Developmental Disorder with Short Stature, Facial...

Publications for Intellectual Developmental Disorder with Short Stature, Facial...

Articles related to Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

# Title Authors Year
1
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. ( 30481285 )
2018
2
Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome. ( 11477608 )
2001

Variations for Intellectual Developmental Disorder with Short Stature, Facial...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXL3 NC_000013.11: g.77018626G> A single nucleotide variant Pathogenic GRCh37 Chromosome 13, 77592761: 77592761
2 FBXL3 NC_000013.11: g.77018626G> A single nucleotide variant Pathogenic GRCh38 Chromosome 13, 77018626: 77018626
3 FBXL3 NM_012158.3(FBXL3): c.884del (p.Leu295Tyrfs) deletion Pathogenic GRCh37 Chromosome 13, 77581683: 77581683
4 FBXL3 NM_012158.3(FBXL3): c.884del (p.Leu295Tyrfs) deletion Pathogenic GRCh38 Chromosome 13, 77007548: 77007548
5 FBXL3 NC_000013.11: g.77007360A> G single nucleotide variant Pathogenic GRCh37 Chromosome 13, 77581495: 77581495
6 FBXL3 NC_000013.11: g.77007360A> G single nucleotide variant Pathogenic GRCh38 Chromosome 13, 77007360: 77007360

Expression for Intellectual Developmental Disorder with Short Stature, Facial...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects.

Pathways for Intellectual Developmental Disorder with Short Stature, Facial...

GO Terms for Intellectual Developmental Disorder with Short Stature, Facial...

Sources for Intellectual Developmental Disorder with Short Stature, Facial...

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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