SBIDDS
MCID: SHR124
MIFTS: 27

Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures (SBIDDS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Short Stature, Brachydactyly, Impaired Intellectual Development,...

MalaCards integrated aliases for Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

Name: Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 57
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 57 72 29 6
Sbidds 57 58 72
Short Stature, Brachydactyly, Impaired Intellectual Developmental, and Seizures 72
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable dysmorphic features


HPO:

31
short stature, brachydactyly, impaired intellectual development, and seizures:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Brachydactyly, Impaired Intellectual Development,...

UniProtKB/Swiss-Prot : 72 Short stature, brachydactyly, impaired intellectual developmental, and seizures: An autosomal recessive disease characterized by developmental delay, learning disabilities, mild mental retardation, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals.

MalaCards based summary : Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures, is also known as short stature, brachydactyly, intellectual developmental disability, and seizures. An important gene associated with Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures is PRMT7 (Protein Arginine Methyltransferase 7). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and brachydactyly

More information from OMIM: 617157

Related Diseases for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Symptoms & Phenotypes for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Human phenotypes related to Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
4 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
5 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
6 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
7 short fourth metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0004689
8 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
9 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
11 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
12 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
13 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
14 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
15 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
16 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
20 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
21 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
22 seizure 31 frequent (33%) HP:0001250
23 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
24 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
25 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
26 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
27 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
28 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
29 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
30 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
31 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
32 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
33 pseudohypoparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000852
34 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
35 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
36 coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000589
37 patellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003065
38 dacryocystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000620
39 abnormal conus terminalis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0031938
40 thick corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007074
41 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
42 seizures 58 Frequent (79-30%)
43 frontal bossing 31 HP:0002007
44 high palate 31 HP:0000218
45 depressed nasal bridge 31 HP:0005280
46 wide nasal bridge 31 HP:0000431
47 delayed speech and language development 31 HP:0000750
48 abnormal facial shape 58 Very frequent (99-80%)
49 short stature 31 HP:0004322
50 epicanthus 31 HP:0000286

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
delayed myelination
delayed psychomotor development
learning disabilities
delayed walking
more
Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Face:
retrognathia
long philtrum
malar hypoplasia
square chin

Skeletal Hands:
brachydactyly
short metacarpals
webbing of the fingers

Head And Neck Mouth:
high-arched palate
thin lips

Endocrine Features:
pseudohypoparathyroidism (in 1 family)

Head And Neck Head:
frontal bossing
microcephaly

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
broad nasal tip
anteverted nostrils
broad nasal root

Head And Neck Eyes:
strabismus
astigmatism
epicanthal folds
deep-set eyes
short palpebral fissures
more
Growth Weight:
obesity

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
short metatarsals

Clinical features from OMIM®:

617157 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Search Clinical Trials , NIH Clinical Center for Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures

Genetic Tests for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Genetic tests related to Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

# Genetic test Affiliating Genes
1 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 29 PRMT7

Anatomical Context for Short Stature, Brachydactyly, Impaired Intellectual Development,...

MalaCards organs/tissues related to Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

40
Eye, Brain

Publications for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Articles related to Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

# Title Authors PMID Year
1
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations. 6 57
30513135 2019
2
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. 57 6
27718516 2017
3
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 57 6
26437029 2015
4
Further delineation of the phenotype caused by loss of function mutations in PRMT7. 61
30006058 2019
5
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review. 61
28902392 2018

Variations for Short Stature, Brachydactyly, Impaired Intellectual Development,...

ClinVar genetic disease variations for Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRMT7 NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr) SNV Pathogenic 266022 rs149170494 GRCh37: 16:68349977-68349977
GRCh38: 16:68316074-68316074
2 PRMT7 NM_019023.4(PRMT7):c.1276-1G>A SNV Pathogenic 266020 rs886039897 GRCh37: 16:68381533-68381533
GRCh38: 16:68347630-68347630
3 PRMT7 NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) SNV Pathogenic 266023 rs762515973 GRCh37: 16:68380151-68380151
GRCh38: 16:68346248-68346248
4 PRMT7 NM_019023.4(PRMT7):c.1056-1G>T SNV Pathogenic 266024 rs201824659 GRCh37: 16:68380047-68380047
GRCh38: 16:68346144-68346144
5 PRMT7 NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) SNV Pathogenic 266021 rs751670999 GRCh37: 16:68386217-68386217
GRCh38: 16:68352314-68352314
6 PRMT7 NC_000016.9:g.68345747_68361056del Deletion Pathogenic 427216 GRCh37:
GRCh38:
7 PRMT7 NM_019023.5(PRMT7):c.429_430AG[1] (p.Glu144fs) Microsatellite Pathogenic 522559 rs1567690011 GRCh37: 16:68371399-68371400
GRCh38: 16:68337496-68337497
8 PRMT7 NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs) Duplication Pathogenic 522593 rs1567721991 GRCh37: 16:68381160-68381161
GRCh38: 16:68347257-68347258
9 PRMT7 NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) Microsatellite Likely pathogenic 932173 GRCh37: 16:68380061-68380062
GRCh38: 16:68346158-68346159
10 PRMT7 NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) SNV Likely pathogenic 585047 rs372375423 GRCh37: 16:68373764-68373764
GRCh38: 16:68339861-68339861
11 PRMT7 NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) Duplication Likely pathogenic 932209 GRCh37: 16:68386235-68386236
GRCh38: 16:68352332-68352333
12 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Likely pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
13 PRMT7 NM_019023.5(PRMT7):c.1489C>T (p.Arg497Trp) SNV Uncertain significance 931778 GRCh37: 16:68386226-68386226
GRCh38: 16:68352323-68352323
14 PRMT7 NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys) SNV Uncertain significance 638359 rs1033540334 GRCh37: 16:68390997-68390997
GRCh38: 16:68357094-68357094
15 PRMT7 NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg) SNV Uncertain significance 915395 GRCh37: 16:68371424-68371424
GRCh38: 16:68337521-68337521
16 PRMT7 NM_019023.5(PRMT7):c.499G>A (p.Val167Met) SNV Uncertain significance 1028135 GRCh37: 16:68371469-68371469
GRCh38: 16:68337566-68337566
17 PRMT7 NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys) SNV Uncertain significance 1032052 GRCh37: 16:68380070-68380070
GRCh38: 16:68346167-68346167
18 PRMT7 NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys) SNV Uncertain significance 1032053 GRCh37: 16:68389701-68389701
GRCh38: 16:68355798-68355798
19 PRMT7 NM_019023.5(PRMT7):c.282+3A>G SNV Uncertain significance 1032054 GRCh37: 16:68358738-68358738
GRCh38: 16:68324835-68324835

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures:

72
# Symbol AA change Variation ID SNP ID
1 PRMT7 p.Arg32Thr VAR_076329 rs149170494
2 PRMT7 p.Arg387Gly VAR_076330 rs762515973
3 PRMT7 p.Trp494Arg VAR_076331 rs751670999

Expression for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Search GEO for disease gene expression data for Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures.

Pathways for Short Stature, Brachydactyly, Impaired Intellectual Development,...

GO Terms for Short Stature, Brachydactyly, Impaired Intellectual Development,...

Sources for Short Stature, Brachydactyly, Impaired Intellectual Development,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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