CEBALID
MCID: CBL011
MIFTS: 23

Cebalid Syndrome (CEBALID)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Cebalid Syndrome

MalaCards integrated aliases for Cebalid Syndrome:

Name: Cebalid Syndrome 56 73 6
Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development 56 73
Cebalid 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
variable phenotype and severity
some patients may attend special schools whereas others have severe intellectual impairment and are non-verbal


HPO:

31
cebalid syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cebalid Syndrome

OMIM : 56 CEBALID syndrome is a complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Common features include abnormal skull shape, characteristic facial features with midface hypoplasia, hypertelorism, and high-arched palate, and dysmorphic ears often associated with conductive or sensorineural deafness. Affected individuals have delayed walking and significant expressive speech and language delay, but many can attend special schools. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia (summary by Mak et al., 2020). See also Gomez-Lopez-Hernandez syndrome (GLHS; 601853), which has an overlapping phenotype. (618774)

MalaCards based summary : Cebalid Syndrome, is also known as craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development. An important gene associated with Cebalid Syndrome is MN1 (MN1 Proto-Oncogene, Transcriptional Regulator). Affiliated tissues include brain and olfactory bulb, and related phenotypes are hearing impairment and intellectual disability

UniProtKB/Swiss-Prot : 73 CEBALID syndrome: An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery.

Related Diseases for Cebalid Syndrome

Symptoms & Phenotypes for Cebalid Syndrome

Human phenotypes related to Cebalid Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 intellectual disability 31 very rare (1%) HP:0001249
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 hypertelorism 31 very rare (1%) HP:0000316
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 neurological speech impairment 31 very rare (1%) HP:0002167
7 short nose 31 very rare (1%) HP:0003196
8 anteverted nares 31 very rare (1%) HP:0000463
9 thick eyebrow 31 very rare (1%) HP:0000574
10 prominent forehead 31 very rare (1%) HP:0011220
11 feeding difficulties 31 very rare (1%) HP:0011968
12 flat face 31 very rare (1%) HP:0012368
13 high palate 31 very rare (1%) HP:0000218
14 low-set ears 31 very rare (1%) HP:0000369
15 motor delay 31 very rare (1%) HP:0001270
16 dolichocephaly 31 very rare (1%) HP:0000268
17 downslanted palpebral fissures 31 very rare (1%) HP:0000494
18 depressed nasal ridge 31 very rare (1%) HP:0000457
19 highly arched eyebrow 31 very rare (1%) HP:0002553
20 congenital diaphragmatic hernia 31 very rare (1%) HP:0000776
21 severe global developmental delay 31 very rare (1%) HP:0011344
22 midface retrusion 31 very rare (1%) HP:0011800
23 polymicrogyria 31 very rare (1%) HP:0002126
24 posteriorly rotated ears 31 very rare (1%) HP:0000358
25 generalized hypotonia 31 very rare (1%) HP:0001290
26 abnormality of the pinna 31 very rare (1%) HP:0000377
27 polyphagia 31 very rare (1%) HP:0002591
28 seizure 31 very rare (1%) HP:0001250
29 brachycephaly 31 HP:0000248
30 nystagmus 31 HP:0000639
31 turricephaly 31 HP:0000262
32 plagiocephaly 31 HP:0001357
33 narrow forehead 31 HP:0000341
34 duane anomaly 31 HP:0009921

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
polymicrogyria
cerebellar hypoplasia
cerebellar dysplasia
enlarged ventricles
more
Muscle Soft Tissue:
inguinal hernia
hypotonia

Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
turricephaly
plagiocephaly
dolicocephaly
platystencephaly

Abdomen Gastrointestinal:
feeding difficulties
hyperphagia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Cardiovascular Vascular:
persistent medial primitive trigeminal artery

Head And Neck Nose:
depressed nasal bridge
short nose
upturned nose

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
downslanting palpebral fissures
thick eyebrows
more
Head And Neck Ears:
sensorineural hearing impairment
low-set ears
conductive hearing impairment
posteriorly rotated ears
dysplastic ears
more
Head And Neck Face:
prominent forehead
frontal bossing
retrognathia
micrognathia
midface hypoplasia
more
Skeletal Skull:
shallow orbits
craniosynostosis (in some patients)

Head And Neck Teeth:
crowded teeth

Head And Neck Mouth:
thin lips high-arched palate

Clinical features from OMIM:

618774

Drugs & Therapeutics for Cebalid Syndrome

Search Clinical Trials , NIH Clinical Center for Cebalid Syndrome

Genetic Tests for Cebalid Syndrome

Anatomical Context for Cebalid Syndrome

MalaCards organs/tissues related to Cebalid Syndrome:

40
Brain, Olfactory Bulb

Publications for Cebalid Syndrome

Articles related to Cebalid Syndrome:

# Title Authors PMID Year
1
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 56 6
31834374 2020
2
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. 56 6
31839203 2020
3
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. 6 56
22965664 2012
4
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. 6 56
22451504 2012

Variations for Cebalid Syndrome

ClinVar genetic disease variations for Cebalid Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MN1 NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)SNV Pathogenic 809340 22:28146963-28146963 22:27750975-27750975
2 MN1 NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)SNV Pathogenic 812558 22:28192787-28192787 22:27796799-27796799
3 MN1 NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)SNV Pathogenic 812559 22:28147049-28147049 22:27751061-27751061
4 MN1 NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)duplication Pathogenic 812561 22:28146986-28146987 22:27750998-27750999
5 MN1 NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)SNV Pathogenic 812563 22:28147031-28147031 22:27751043-27751043
6 MN1 NM_002430.3:c.3846_3849delshort repeat Pathogenic 812564 22:28147017-28147020 22:27751029-27751032
7 MN1 NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)SNV Conflicting interpretations of pathogenicity 72912 rs147334255 22:28146983-28146983 22:27750995-27750995

Expression for Cebalid Syndrome

Search GEO for disease gene expression data for Cebalid Syndrome.

Pathways for Cebalid Syndrome

GO Terms for Cebalid Syndrome

Sources for Cebalid 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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