Hal Results

IYD

iodotyrosine deiodinase
10/17/2018

KMT2C

lysine methyltransferase 2C
08/23/2018

HAL

histidine ammonia-lyase

LDHAL6A

lactate dehydrogenase A like 6A

LDHAL6B

lactate dehydrogenase A like 6B

undetermined early-onset epileptic encephalopathy

MONDO_0018614 Condition
Undetermined EOEE
01/17/2019

glycine encephalopathy

MONDO_0011612 Condition
Non-ketotic hyperglycinemia
12/12/2018

early infantile epileptic encephalopathy

MONDO_0016021 Condition
Early Infantile Epileptic Encephalopathy with Burst-Suppression
10/02/2018

10/18/2018

leukoencephalopathy with vanishing white matter

MONDO_0011380 Condition
Cree leukoencephalopathy
10/16/2018

lethal congenital contracture syndrome 3

MONDO_0012656 Condition
Lethal Congenital Contracture Syndrome type 3
05/31/2017

holoprosencephaly 9

MONDO_0012563 Condition
pituitary anomalies with holoprosencephaly-like features
05/31/2017

mandibulofacial dysostosis-microcephaly syndrome

MONDO_0012516 Condition
MFDM syndrome
09/11/2017

epileptic encephalopathy, early infantile, 4

MONDO_0012812 Condition
Epileptic Encephalopathy, Early Infantile, type 4
09/11/2017

holoprosencephaly 5

MONDO_0012322 Condition
Holoprosencephaly type 5
05/12/2017

isolated microphthalmia 3

MONDO_0012604 Condition
Microphthalmia, Isolated type 3
05/31/2017

microphthalmia with linear skin defects syndrome

MONDO_0010672 Condition
Microphthalmia-dermal aplasia-sclerocornea syndrome
06/01/2017

isolated microphthalmia 8

MONDO_0014050 Condition
Microphthalmia, Isolated type 8
10/18/2018

05/31/2017

microcephaly and chorioretinopathy 1

MONDO_0009624 Condition
microcephaly and chorioretinopathy type 1
10/16/2018

lethal osteosclerotic bone dysplasia

MONDO_0009821 Condition
Raine syndrome
06/01/2017

11/09/2018