|
congenital alopecia, and nail dystrophy t-cell immunodeficiency
|
C536781 |
|
|
anal anomalies, and porokeratosis craniosynostosis
|
C536789 |
|
|
sensorineural deafness and spastic paraparesis spinocerebellar ataxia associated with localized amyotrophy of the hands
|
C537678 |
|
|
marfanoid habitus and specific language and learning disabilities
|
C567864 |
|
|
craniosynostosis radial aplasia syndrome
|
C536788 |
|
|
heterotopia, periventricular, associated with chromosome 5q deletion
|
C567876 |
|
|
spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis
|
C537678 |
|
|
charlevoix-saguenay spastic ataxia
|
C536787 |
|
|
familial, 8 atrial fibrillation
|
C567802 |
|
|
intellectual disability, autosomal dominant 39
|
14678 |
|
|
mental retardation, autosomal dominant 39
|
14678 |
|
|
mental retardation, autosomal dominant 39; MRD39
|
http://purl.obolibrary.org/obo/MONDO_0014678 |
|
|
intellectual disability, autosomal dominant type 39
|
14678 |
|
|
mental retardation, autosomal dominant type 39
|
14678 |
|
|
spastic paraplegia-50, autosomal recessive
|
C567858 |
|
