Phenotype: Horizontal eyebrow (HP:0011228)
Associated genes and diseases:
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: RALA
disease_id: OMIM:619311
disease_name: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: FOXP2
disease_id: ORPHA:209908
disease_name: Isolated childhood apraxia of speech
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SPEN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SKI
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: HSPG2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: RERE
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: TRAPPC9
disease_id: ORPHA:352530
disease_name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: ACTB
disease_id: OMIM:620475
disease_name: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease