Phenotype: Diastema (HP:0000699)
Associated genes and diseases:
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: TCF12
disease_id: OMIM:619718
disease_name: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: ACTL6B
disease_id: OMIM:618470
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
gene_symbol: PRKACA
disease_id: OMIM:619142
disease_name: CARDIOACROFACIAL DYSPLASIA 1
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: PACS1
disease_id: OMIM:615009
disease_name: SCHUURS-HOEIJMAKERS SYNDROME
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13