OMIM
Db Link Name Definition Comment Is a
OMIM OMIM:617481 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA
OMIM OMIM:617493 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM
OMIM OMIM:617506 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2
OMIM OMIM:617507 PEHO-LIKE SYNDROME; PEHOL
OMIM OMIM:617514 IMMUNODEFICIENCY 52; IMD52
OMIM OMIM:617516 STANKIEWICZ-ISIDOR SYNDROME; STISS
OMIM OMIM:617519 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND
OMIM OMIM:617520 MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18
OMIM OMIM:617523 NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM
OMIM OMIM:617524 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2
OMIM OMIM:617525 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
OMIM OMIM:617526 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4
OMIM OMIM:617527 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA
OMIM OMIM:617532 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF
OMIM OMIM:617537 RAHMAN SYNDROME; RMNS
OMIM OMIM:617540 PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5
OMIM OMIM:617542 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2
OMIM OMIM:617547 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS
OMIM OMIM:617557 GABRIELE-DE VRIES SYNDROME; GADEVS
OMIM OMIM:617560 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8
OMIM OMIM:617561 COHEN-GIBSON SYNDROME; COGIS
OMIM OMIM:617562 MECKEL SYNDROME 13; MKS13
OMIM OMIM:617563 OROFACIODIGITAL SYNDROME XVI; OFD16
OMIM OMIM:617564 MEIER-GORLIN SYNDROME 8; MGORS8
OMIM OMIM:617565 PERRAULT SYNDROME 6; PRLTS6