HAFOUS
MCID: HFN001
MIFTS: 22

Hao-Fountain Syndrome (HAFOUS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hao-Fountain Syndrome

MalaCards integrated aliases for Hao-Fountain Syndrome:

Name: Hao-Fountain Syndrome 56
Intellectual Developmental Disorder with Impaired Speech, Behavioral Abnormalities, and Dysmorphic Facies 56
Chromosome 16p13.2 Deletion Syndrome 56
16p13.2 Microdeletion Syndrome 58
Monosomy 16p13.2 58
Del(16)(p13.2) 58
Hafous 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletions occur de novo


HPO:

31
hao-fountain syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Hao-Fountain Syndrome

OMIM : 56 Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging (summary by Fountain et al., 2019). (616863)

MalaCards based summary : Hao-Fountain Syndrome, is also known as intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies. An important gene associated with Hao-Fountain Syndrome is DEL16P13.2 (Chromosome 16p13.2 Deletion Syndrome). Affiliated tissues include brain and skin, and related phenotypes are global developmental delay and abnormal facial shape

Related Diseases for Hao-Fountain Syndrome

Symptoms & Phenotypes for Hao-Fountain Syndrome

Human phenotypes related to Hao-Fountain Syndrome:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001999
3 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
4 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
5 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
8 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
10 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
11 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
12 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
13 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
14 autistic behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000729
15 aggressive behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000718
16 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
17 cerebral white matter atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012762
18 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
19 dilated third ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0007082
20 seizure 31 very rare (1%) HP:0001250
21 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
22 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
25 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
26 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
27 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
28 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
29 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
30 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
31 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
32 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
33 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
34 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
35 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
36 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
37 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
38 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
39 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
40 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
41 relative macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004482
42 abnormal temper tantrums 58 31 occasional (7.5%) Occasional (29-5%) HP:0025160
43 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
44 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
45 obsessive-compulsive trait 58 31 occasional (7.5%) Occasional (29-5%) HP:0008770
46 skin-picking 58 31 occasional (7.5%) Occasional (29-5%) HP:0012166
47 overweight 58 31 occasional (7.5%) Occasional (29-5%) HP:0025502
48 muscular hypotonia 58 31 very rare (1%) Frequent (79-30%) HP:0001252
49 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
50 low-set ears 31 very rare (1%) HP:0000369

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
speech apraxia
delayed psychomotor development
poor or absent speech
seizures (in most patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic spectrum disorder

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616863

Drugs & Therapeutics for Hao-Fountain Syndrome

Search Clinical Trials , NIH Clinical Center for Hao-Fountain Syndrome

Genetic Tests for Hao-Fountain Syndrome

Anatomical Context for Hao-Fountain Syndrome

MalaCards organs/tissues related to Hao-Fountain Syndrome:

40
Brain, Skin

Publications for Hao-Fountain Syndrome

Articles related to Hao-Fountain Syndrome:

# Title Authors PMID Year
1
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. 56
30679821 2019
2
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. 56
26365382 2015

Variations for Hao-Fountain Syndrome

Expression for Hao-Fountain Syndrome

Search GEO for disease gene expression data for Hao-Fountain Syndrome.

Pathways for Hao-Fountain Syndrome

GO Terms for Hao-Fountain Syndrome

Sources for Hao-Fountain Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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