Search results for dhh

Showing 25 of 393 hits for dhh
# Family MCID Name MIFTS Score
1
c 46X047 46,xy Sex Reversal 7 32 72.767
2
46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28 30.607
3
c 46X082 46,xy Sex Reversal 50 21.777
4
P GND004 Gonadal Dysgenesis 48 18.259
5
P PLY019 Polyneuropathy 53 14.623
6
P DSR090 Disorder of Sexual Development 52 13.136
7
CRY035 Cryptorchidism, Unilateral or Bilateral 60 8.345
8
PSD009 Pseudohermaphroditism 45 8.302
9
c BSL007 Basal Cell Carcinoma 67 7.851
10
BSL036 Basal Cell Nevus Syndrome 74 7.549
11
P HLP001 Holoprosencephaly 66 7.478
12
c 46X081 46,xx Sex Reversal 35 7.427
13
P PLL001 Pallister-Hall Syndrome 66 7.305
14
c BRC078 Brachydactyly, Type A1 54 7.305
15
GRG001 Greig Cephalopolysyndactyly Syndrome 63 7.305
16
ACR002 Acrocapitofemoral Dysplasia 51 7.305
17
c HLP027 Holoprosencephaly 7 47 7.305
18
45X001 45,x/46,xy Mixed Gonadal Dysgenesis 37 7.305
19
c JBR043 Joubert Syndrome 32 46 7.305
20
c CNG031 Congenital Nervous System Abnormality 32 7.305
21
PLX002 Plexiform Neurofibroma 46 7.305
22
INF039 Infratentorial Cancer 39 7.305
23
PTR003 Petrous Apex Meningioma 26 7.305
25
P TRN020 Turner Syndrome 70 3.677
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