|
lenz-majewski hyperostotic dwarfism
|
151050 |
|
|
disproportionate short stature with ptosis and valvular heart lesions
|
126190 |
|
|
nevus anemicus
|
163050 |
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
212540 |
|
|
discrimination, two-point, reduction 1n
|
126180 |
|
|
Omodysplasia
|
PS258315 |
|
|
175020
|
175020 |
|
|
optic disc anomalies with retinal and/or macular dystrophy
|
212550 |
|
|
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
|
236500 |
|
|
acheiropody
|
200500 |
|
|
TAL1
|
187040 |
|
|
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|
175050 |
|
|
CALCRL
|
114190 |
|
|
CHR_9606chr21q21.3
|
CHR_9606chr21q21.3 |
|
|
Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600})
|
PS187300 |
|
|
CHR_9606chr21q21.1
|
CHR_9606chr21q21.1 |
|
|
CHR_9606chr11q22-qter
|
CHR_9606chr11q22-qter |
|
|
teeth present at birth
|
187050 |
|
|
CALML3
|
114184 |
|
|
CALM3
|
114183 |
|
