Disease #00617

Official abbreviation TCS1
Name Treacher Collins syndrome, type 1 (TCS1)
OMIM ID 154500
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 1 gene TCOF1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00295670 - - - F no Italy - 35y 0 - - TCS1 - TCOF1 TCOF1 1 1 Francesco Brancati
00301206 - - - M no China African 00y06m 0 - - TCS1 The patient had malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, malformed ears, and loss hearing TCOF1 TCOF1 1 1 Jinxiu Liu
00305490 Case 1 proband - - F - China - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment TCOF1 TCOF1 1 1 Zhaoyu Pan
00305493 Case 2 proband - - M no China - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment TCOF1 TCOF1 1 1 Zhaoyu Pan
00305494 Case 3 proband - - - - - - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment TCOF1 TCOF1 1 1 Zhaoyu Pan
00305495 Case 4 proband - - - - - - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Hypoplasia of the middle ear; Conductive hearing impairment TCOF1 TCOF1 1 1 Zhaoyu Pan
00305496 Case 5 proband - - M - China - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Atresia of the external auditory canal; Hypoplasia of the middle ear; Conductive hearing impairment TCOF1 TCOF1 1 2 Zhaoyu Pan
00305498 Case 5 proband's mother - - F - China - - - - - TCS1 Maxillozygomatic hypoplasia; Downslanted palpebral fissures; Lower eyelid coloboma; Microretrognathia; Abnormality of the pinna; Conductive hearing impairment TCOF1 TCOF1 1 1 Zhaoyu Pan
Legend