Phenotype: Aplasia/Hypoplasia of the optic nerve (HP:0008058)
Associated genes and diseases:
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: STAG2
disease_id: OMIM:301043
disease_name: HOLOPROSENCEPHALY 13, X-LINKED
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: CASK
disease_id: ORPHA:163937
disease_name: X-linked intellectual disability, Najm type
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: SCN8A
disease_id: OMIM:614306
disease_name: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: TUBA8
disease_id: ORPHA:250972
disease_name: Polymicrogyria with optic nerve hypoplasia
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: SNF8
disease_id: OMIM:620783
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: PTF1A
disease_id: ORPHA:65288
disease_name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pancreatic and cerebellar agenesis
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: ZPR1
disease_id: OMIM:619321
disease_name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: RTTN
disease_id: OMIM:614833
disease_name: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: PAX6
disease_id: OMIM:165550
disease_name: OPTIC NERVE HYPOPLASIA, BILATERAL
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT2
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: MACF1
disease_id: ORPHA:572013
disease_name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
gene_symbol: CEP85L
disease_id: ORPHA:572013
disease_name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: OTX2
disease_id: OMIM:610125
disease_name: MICROPHTHALMIA, SYNDROMIC 5
gene_symbol: OTX2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: OTX2
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: CENPF
disease_id: OMIM:243605
disease_name: STROMME SYNDROME
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: IFT74
disease_id: OMIM:619582
disease_name: JOUBERT SYNDROME 40
gene_symbol: PTPN23
disease_id: OMIM:618890
disease_name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SOX2
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: HESX1
disease_id: OMIM:182230
disease_name: SEPTOOPTIC DYSPLASIA
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: HESX1
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: NR2F1
disease_id: ORPHA:401777
disease_name: Optic atrophy-intellectual disability syndrome
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: DDHD2
disease_id: OMIM:615033
disease_name: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: PROP1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: GABBR1
disease_id: OMIM:620502
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: GLI2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: GMPPB
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMK
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMGNT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FOXA2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: ANKRD11
disease_id: ORPHA:261250
disease_name: 16q24.3 microdeletion syndrome
Del(16)(q24.3)
Monosomy 16q24.3
gene_symbol: GRIA4
disease_id: OMIM:617864
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
gene_symbol: KIF14
disease_id: OMIM:617914
disease_name: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: B3GALNT2
disease_id: OMIM:615181
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
gene_symbol: FGFR1
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: PROKR2
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: SOX3
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: ARNT2
disease_id: ORPHA:3157
disease_name: Septo-optic dysplasia spectrum
De Morsier syndrome
SOD
Septo-optic dysplasia
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: GDF6
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: GDF3
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: RNF135
disease_id: ORPHA:137634
disease_name: Overgrowth-macrocephaly-facial dysmorphism syndrome
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: WDR11
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: ROBO1
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: CDON
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: GPR161
disease_id: ORPHA:95496
disease_name: Pituitary stalk interruption syndrome
Ectopic neurohypophysis
PSIS
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia