HADDS
MCID: HYP711
MIFTS: 21

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Hypotonia, Ataxia, and Delayed Development Syndrome

MalaCards integrated aliases for Hypotonia, Ataxia, and Delayed Development Syndrome:

Name: Hypotonia, Ataxia, and Delayed Development Syndrome 57 75 29 6
Hadds 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
dysmorphic features are variable
de novo mutations (in most patients)


HPO:

32
hypotonia, ataxia, and delayed development syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotonia, Ataxia, and Delayed Development Syndrome

OMIM : 57 Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017). (617330)

MalaCards based summary : Hypotonia, Ataxia, and Delayed Development Syndrome, is also known as hadds. An important gene associated with Hypotonia, Ataxia, and Delayed Development Syndrome is EBF3 (EBF Transcription Factor 3). Affiliated tissues include eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Hypotonia, ataxia, and delayed development syndrome: An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux.

Related Diseases for Hypotonia, Ataxia, and Delayed Development Syndrome

Symptoms & Phenotypes for Hypotonia, Ataxia, and Delayed Development Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
synophrys
astigmatism
downslanting palpebral fissures
more
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
global developmental delay
dysmetria
more
Head And Neck Face:
prominent forehead
long face
deep philtrum
triangular face
myopathic facies
more
Chest Breasts:
inverted nipples

Genitourinary Bladder:
vesicoureteral reflux

Head And Neck Mouth:
thin upper lip
downturned corners of the mouth

Head And Neck Head:
microcephaly (in some patients)

Genitourinary External Genitalia Female:
hypoplasia of the labia majora

Head And Neck Ears:
low-set ears
posteriorly rotated ears
overfolded helices

Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
testicular failure

Head And Neck Nose:
broad nasal tip
high nasal bridge
short anteverted nostrils

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic behaviors

Prenatal Manifestations Movement:
reduced fetal movements (in some patients)


Clinical features from OMIM:

617330

Human phenotypes related to Hypotonia, Ataxia, and Delayed Development Syndrome:

32 (show all 44)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 intellectual disability 32 HP:0001249
4 dysarthria 32 HP:0001260
5 dysphagia 32 HP:0002015
6 global developmental delay 32 HP:0001263
7 delayed speech and language development 32 HP:0000750
8 microcephaly 32 occasional (7.5%) HP:0000252
9 short stature 32 occasional (7.5%) HP:0004322
10 gastroesophageal reflux 32 HP:0002020
11 stereotypy 32 HP:0000733
12 prominent forehead 32 HP:0011220
13 strabismus 32 HP:0000486
14 epicanthus 32 HP:0000286
15 cryptorchidism 32 HP:0000028
16 inverted nipples 32 HP:0003186
17 dysmetria 32 HP:0001310
18 prominent nasal bridge 32 HP:0000426
19 deeply set eye 32 HP:0000490
20 apraxia 32 HP:0002186
21 downslanted palpebral fissures 32 HP:0000494
22 downturned corners of mouth 32 HP:0002714
23 broad nasal tip 32 HP:0000455
24 vesicoureteral reflux 32 HP:0000076
25 overfolded helix 32 HP:0000396
26 long face 32 HP:0000276
27 thin upper lip vermilion 32 HP:0000219
28 deep philtrum 32 HP:0002002
29 high forehead 32 HP:0000348
30 decreased fetal movement 32 occasional (7.5%) HP:0001558
31 triangular face 32 HP:0000325
32 synophrys 32 HP:0000664
33 cerebellar atrophy 32 occasional (7.5%) HP:0001272
34 myopathic facies 32 HP:0002058
35 astigmatism 32 HP:0000483
36 micropenis 32 HP:0000054
37 generalized hypotonia 32 HP:0001290
38 posteriorly rotated ears 32 HP:0000358
39 poor head control 32 HP:0002421
40 horizontal eyebrow 32 HP:0011228
41 oval face 32 HP:0000300
42 short chin 32 HP:0000331
43 broad chin 32 HP:0011822
44 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Hypotonia, Ataxia, and Delayed Development Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotonia, Ataxia, and Delayed Development Syndrome

Genetic Tests for Hypotonia, Ataxia, and Delayed Development Syndrome

Genetic tests related to Hypotonia, Ataxia, and Delayed Development Syndrome:

# Genetic test Affiliating Genes
1 Hypotonia, Ataxia, and Delayed Development Syndrome 29 EBF3

Anatomical Context for Hypotonia, Ataxia, and Delayed Development Syndrome

MalaCards organs/tissues related to Hypotonia, Ataxia, and Delayed Development Syndrome:

41
Eye

Publications for Hypotonia, Ataxia, and Delayed Development Syndrome

Variations for Hypotonia, Ataxia, and Delayed Development Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Ataxia, and Delayed Development Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 EBF3 p.Asn66Asp VAR_078033 rs105751951
2 EBF3 p.Tyr141Cys VAR_078034 rs105751951
3 EBF3 p.Arg163Leu VAR_078036 rs105751938
4 EBF3 p.Arg163Pro VAR_078037 rs105751938
5 EBF3 p.Arg163Gln VAR_078038 rs105751938
6 EBF3 p.Gly171Asp VAR_078039 rs105751943
7 EBF3 p.Pro177Leu VAR_078040 rs869312668
8 EBF3 p.Lys193Asn VAR_078041 rs105751952
9 EBF3 p.Arg209Trp VAR_078042 rs779003155

ClinVar genetic disease variations for Hypotonia, Ataxia, and Delayed Development Syndrome:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh37 Chromosome 10, 131755546: 131755546
2 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh38 Chromosome 10, 129957282: 129957282
3 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
4 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
5 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
6 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
7 EBF3 NM_001005463.2(EBF3): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs1057519092 GRCh37 Chromosome 10, 131755589: 131755589
8 EBF3 NM_001005463.2(EBF3): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs1057519092 GRCh38 Chromosome 10, 129957325: 129957325
9 EBF3 NM_001005463.2(EBF3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs779003155 GRCh37 Chromosome 10, 131676043: 131676043
10 EBF3 NM_001005463.2(EBF3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs779003155 GRCh38 Chromosome 10, 129877779: 129877779
11 EBF3 NM_001005463.2(EBF3): c.196A> G (p.Asn66Asp) single nucleotide variant Pathogenic rs1057519518 GRCh38 Chromosome 10, 129963462: 129963462
12 EBF3 NM_001005463.2(EBF3): c.196A> G (p.Asn66Asp) single nucleotide variant Pathogenic rs1057519518 GRCh37 Chromosome 10, 131761726: 131761726
13 EBF3 NM_001005463.2(EBF3): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs1057519519 GRCh38 Chromosome 10, 129958997: 129958997
14 EBF3 NM_001005463.2(EBF3): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs1057519519 GRCh37 Chromosome 10, 131757261: 131757261
15 EBF3 NM_001005463.2(EBF3): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
16 EBF3 NM_001005463.2(EBF3): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
17 EBF3 NM_001005463.2(EBF3): c.579G> T (p.Lys193Asn) single nucleotide variant Pathogenic rs1057519520 GRCh38 Chromosome 10, 129877825: 129877825
18 EBF3 NM_001005463.2(EBF3): c.579G> T (p.Lys193Asn) single nucleotide variant Pathogenic rs1057519520 GRCh37 Chromosome 10, 131676089: 131676089
19 EBF3 NM_001005463.2(EBF3): c.280_283delGAGA (p.Glu94Lysfs) deletion Pathogenic rs1057519521 GRCh38 Chromosome 10, 129963375: 129963378
20 EBF3 NM_001005463.2(EBF3): c.280_283delGAGA (p.Glu94Lysfs) deletion Pathogenic rs1057519521 GRCh37 Chromosome 10, 131761639: 131761642
21 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh37 Chromosome 10, 131676052: 131676052
22 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh38 Chromosome 10, 129877788: 129877788
23 EBF3 NM_001005463.2(EBF3): c.554G> A (p.Arg185Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 131755522: 131755522
24 EBF3 NM_001005463.2(EBF3): c.554G> A (p.Arg185Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 129957258: 129957258
25 EBF3 NM_001005463.2(EBF3): c.593G> A (p.Cys198Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 129877811: 129877811
26 EBF3 NM_001005463.2(EBF3): c.593G> A (p.Cys198Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 131676075: 131676075
27 EBF3 NM_001005463.2(EBF3): c.461_462delTGinsCT (p.Leu154Pro) indel Likely pathogenic GRCh37 Chromosome 10, 131757221: 131757222
28 EBF3 NM_001005463.2(EBF3): c.461_462delTGinsCT (p.Leu154Pro) indel Likely pathogenic GRCh38 Chromosome 10, 129958957: 129958958

Expression for Hypotonia, Ataxia, and Delayed Development Syndrome

Search GEO for disease gene expression data for Hypotonia, Ataxia, and Delayed Development Syndrome.

Pathways for Hypotonia, Ataxia, and Delayed Development Syndrome

GO Terms for Hypotonia, Ataxia, and Delayed Development Syndrome

Sources for Hypotonia, Ataxia, and Delayed Development Syndrome

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