Phenotypes for disease #00078 (MKS1 (Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)), OMIM:249000)

16 entries on 1 page. Showing entries 1 - 16.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000002985 - Unknown - - - - - - - Tania Attie-Bitach 00004268
0000043065 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056057
0000043069 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056056
0000043070 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056055
0000043074 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056050
0000043075 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056051
0000043076 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056052
0000043077 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056053
0000043078 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056058
0000043079 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056059
0000043080 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056060
0000043081 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056061
0000043082 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056062
0000043083 - Unknown - - - - - Meckel-Gruber syndrome - Johan den Dunnen 00056063
0000045423 - Familial, autosomal recessive - - - - - Presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. In addition, post-mortem examination after pregnancy termination (23gw) disclosed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, oral-facial defects (lobulated tongue with multiple frenula and cleft soft palate), ambiguous genitalia and anal atresia. Data on liver involvement was not available. - Enza Maria Valente 00058834
0000143701 - Familial, autosomal recessive - - - - - - - Isabel Filges 00181104
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