Rare Disease Library

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Hypoplasia of the mitral valve annulus

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

Isolated cerebellar vermis hypoplasia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital nasal pyriform aperture stenosis

Isolated apertura pyriformis stenosis · Isolated nasal pyriform aperture hypoplasia

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated foveal hypoplasia

Isolated hemihyperplasia

Hemi 3 syndrome · Hemicorporal hypertrophy

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated optic nerve aplasia

Isolated optic nerve hypoplasia

Isolated patella aplasia/hypoplasia

PTLAH

Isolated right ventricular hypoplasia

OBSOLETE: Isolated optic nerve hypoplasia/aplasia

Paramedian nasal cleft

Isolated cleft of the ala nasi · Alar cleft

Thyroid hypoplasia