Phenotype: Prominent nose (HP:0000448)
Associated genes and diseases:
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: COG5
disease_id: ORPHA:263487
disease_name: COG5-CDG
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RNU4ATAC
disease_id: OMIM:226960
disease_name: LOWRY-WOOD SYNDROME
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: LIG4
disease_id: OMIM:606593
disease_name: LIG4 SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:447980
disease_name: 19p13.3 microduplication syndrome
Dup(19)(p13.3)
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: ERCC2
disease_id: OMIM:610756
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 2
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: FBXL3
disease_id: OMIM:606220
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: KAT6B
disease_id: ORPHA:85201
disease_name: Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
gene_symbol: KAT6B
disease_id: ORPHA:3047
disease_name: Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: MED12
disease_id: ORPHA:293707
disease_name: Blepharophimosis-intellectual disability syndrome, MKB type
BMRS, MKB type
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: STIL
disease_id: OMIM:612703
disease_name: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: FGF3
disease_id: ORPHA:90024
disease_name: Deafness with labyrinthine aplasia, microtia, and microdontia
Hearing loss with labyrinthine aplasia, microtia, and microdontia
LAMM syndrome
Microdontia-type I microtia-deafness syndrome
Microdontia-type I microtia-hearing loss syndrome
gene_symbol: FGF3
disease_id: OMIM:610706
disease_name: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: DYNC1I2
disease_id: OMIM:618492
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: SPART
disease_id: ORPHA:101000
disease_name: Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene_symbol: DENND5A
disease_id: OMIM:617281
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BCL11B
disease_id: OMIM:618092
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: TTI2
disease_id: OMIM:615541
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
gene_symbol: TTI2
disease_id: ORPHA:391307
disease_name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
gene_symbol: NIN
disease_id: OMIM:614851
disease_name: SECKEL SYNDROME 7
gene_symbol: NIN
disease_id: ORPHA:319675
disease_name: Microcephalic primordial dwarfism, Dauber type
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: METTL5
disease_id: OMIM:618665
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72
gene_symbol: HYMAI
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PLAGL1
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: AP4S1
disease_id: OMIM:614067
disease_name: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: LMBR1
disease_id: ORPHA:2378
disease_name: Laurin-Sandrow syndrome
Mirror hands and feets-nasal defects syndrome
Sandrow syndrome
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: CENPT
disease_id: OMIM:618702
disease_name: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: ZNF668
disease_id: OMIM:620194
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: EMG1
disease_id: ORPHA:1270
disease_name: Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
gene_symbol: EMG1
disease_id: OMIM:211180
disease_name: BOWEN-CONRADI SYNDROME
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: CDK5RAP2
disease_id: OMIM:604804
disease_name: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: TTC5
disease_id: OMIM:619244
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
gene_symbol: STIM1
disease_id: OMIM:185070
disease_name: STORMORKEN SYNDROME
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: PSMD12
disease_id: OMIM:617516
disease_name: STANKIEWICZ-ISIDOR SYNDROME
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: NBN
disease_id: ORPHA:647
disease_name: Nijmegen breakage syndrome
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
NBS
Seemanova syndrome type 2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: TAF6
disease_id: OMIM:617126
disease_name: ALAZAMI-YUAN SYNDROME
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII