Search results for dhh

Showing 25 of 407 hits for dhh
# Family MCID Name MIFTS Score
1
c 46X047 46,xy Sex Reversal 7 32 72.730
2
46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28 30.581
3
c 46X082 46,xy Sex Reversal 50 21.756
4
P GND004 Gonadal Dysgenesis 48 18.235
5
P DSR090 Disorder of Sexual Development 53 14.969
6
P PLY019 Polyneuropathy 53 14.613
7
CRY035 Cryptorchidism, Unilateral or Bilateral 60 8.340
8
PSD009 Pseudohermaphroditism 45 8.297
9
c BSL007 Basal Cell Carcinoma 67 7.846
10
BSL036 Basal Cell Nevus Syndrome 74 7.546
11
P HLP001 Holoprosencephaly 66 7.475
12
c 46X081 46,xx Sex Reversal 35 7.425
13
P PLL001 Pallister-Hall Syndrome 66 7.304
14
c BRC078 Brachydactyly, Type A1 54 7.304
15
GRG001 Greig Cephalopolysyndactyly Syndrome 63 7.304
16
c JBR043 Joubert Syndrome 32 46 7.304
17
c HLP027 Holoprosencephaly 7 47 7.304
18
ACR002 Acrocapitofemoral Dysplasia 50 7.304
19
45X001 45,x/46,xy Mixed Gonadal Dysgenesis 37 7.304
20
PTR003 Petrous Apex Meningioma 25 7.304
21
PLX002 Plexiform Neurofibroma 46 7.304
22
INF039 Infratentorial Cancer 41 7.304
23
c CNG031 Congenital Nervous System Abnormality 32 7.304
25
P TRN020 Turner Syndrome 70 3.655
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