Disease #04473 (HRTFDS (Hartsfield syndrome (HRTFDS)), OMIM:615465)

Official abbreviation HRTFDS
Name Hartsfield syndrome (HRTFDS)
OMIM ID 615465
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FGFR1
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00174403 - - - M no (Italy) - - - - - HRTFDS Holoprosencephaly (HPE) spectrum disorderslobar HPE (Lobar), HP:0001360, HP:0006870; corpus callosum (parzial Agenesia), HP:0001273; ectrodactyly spectrum disorders (Foot/ Right/Left), HP:0100257, HP:0001839; abnormal genitalia (Micropenis, Cryptorchidism), HP:0000811, HP:0000054, HP:0000028; central diabetes insipidus, HP:0000863; developmental delay/intellectual disability (mild), HP:0012758, HP:0001249 FGFR1 FGFR1 1 1 Lucia Micale
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