Strabismus

Symptom Information:

Symptom ID: HPO:0000486
Synonyms:
Squint [HPO:0000486]
Heterotropia (disorder) [Orphanet:5870]
Strabismus (disorder) [Orphanet:5870]
strabismus [HPO:0000486]
Strabismus [Orphanet:5870]
Squint [OMIM:Squint]
Strabismus [OMIM:Strabismus]
Strabismus/squint [Orphanet:5870]
Binocular eye movement disorder [Orphanet:5870]
Heterophoria [Orphanet:5870]
Strabismus [MedDRA:10042159]
Accommodative component in esotropia [MedDRA:10042159]
Alternating esotropia [MedDRA:10042159]
Alternating esotropia with a pattern [MedDRA:10042159]
Alternating esotropia with other noncomitancies [MedDRA:10042159]
Alternating esotropia with v pattern [MedDRA:10042159]
Alternating exotropia [MedDRA:10042159]
Alternating exotropia with a pattern [MedDRA:10042159]
Alternating exotropia with other noncomitancies [MedDRA:10042159]
Alternating exotropia with v pattern [MedDRA:10042159]
Brown's (tendon) sheath syndrome [MedDRA:10042159]
Convergent concomitant strabismus [MedDRA:10042159]
Convergent squint [MedDRA:10042159]
Cyclotropia [MedDRA:10042159]
Divergent concomitant strabismus [MedDRA:10042159]
Divergent squint [MedDRA:10042159]
Esotropia [MedDRA:10042159]
Esotropia, unspecified [MedDRA:10042159]
Exotropia [MedDRA:10042159]
Exotropia, unspecified [MedDRA:10042159]
Heterotropia [MedDRA:10042159]
Heterotropia, unspecified [MedDRA:10042159]
Hypertropia [MedDRA:10042159]
Hypotropia [MedDRA:10042159]
Intermittent esotropia, alternating [MedDRA:10042159]
Intermittent esotropia, monocular [MedDRA:10042159]
Intermittent exotropia, alternating [MedDRA:10042159]
Intermittent exotropia, monocular [MedDRA:10042159]
Intermittent heterotropia [MedDRA:10042159]
Intermittent heterotropia, unspecified [MedDRA:10042159]
Limited duction associated with other conditions [MedDRA:10042159]
Mechanical strabismus [MedDRA:10042159]
Mechanical strabismus from other musculofascial disorders [MedDRA:10042159]
Mechanical strabismus, unspecified [MedDRA:10042159]
Monocular esotropia [MedDRA:10042159]
Monocular esotropia with a pattern [MedDRA:10042159]
Monocular esotropia with other noncomitancies [MedDRA:10042159]
Monocular esotropia with v pattern [MedDRA:10042159]
Monocular exotropia [MedDRA:10042159]
Monocular exotropia with a pattern [MedDRA:10042159]
Monocular exotropia with other noncomitancies [MedDRA:10042159]
Monocular exotropia with v pattern [MedDRA:10042159]
Monofixation syndrome [MedDRA:10042159]
Other and unspecified heterotropia [MedDRA:10042159]
Other specified strabismus [MedDRA:10042159]
Paralytic strabismus [MedDRA:10042159]
Paralytic strabismus, unspecified [MedDRA:10042159]
Squint [MedDRA:10042159]
Strabismus and other disorders of binocular eye movements [MedDRA:10042159]
Strabismus in other neuromuscular disorders [MedDRA:10042159]
Strabismus NOS [MedDRA:10042159]
Binocular eye movement disorder [MedDRA:10061010]
Anomalies of divergence [MedDRA:10061010]
Binocular eye movement disorder NOS [MedDRA:10061010]
Convergence insufficiency or palsy [MedDRA:10061010]
Other disorders of binocular eye movements [MedDRA:10061010]
Other dissociated deviation of eye movements [MedDRA:10061010]
Unspecified disorder of binocular eye movements [MedDRA:10061010]
Convergence insufficiency [MedDRA:10061010]
Heterophoria [MedDRA:10020015]
Alternating hyperphoria [MedDRA:10020015]
Cyclophoria [MedDRA:10020015]
Esophoria [MedDRA:10020015]
Exophoria [MedDRA:10020015]
Heterophoria, unspecified [MedDRA:10020015]
Vertical heterophoria [MedDRA:10020015]
Hypophoria [MedDRA:10020015]
Cataphoria [MedDRA:10020015]
Convergent squint [OMIM:Convergent squint]
Esophoria [OMIM:Esophoria]
Esophoria (1 patient) [OMIM:Esophoria (1 patient)]
Esophoria (in some patients) [OMIM:Esophoria (in some patients)]
Esotropia (1 patient) [OMIM:Esotropia (1 patient)]
Esotropia (about half of patients) [OMIM:Esotropia (about half of patients)]
Esotropia (in some patients) [OMIM:Esotropia (in some patients)]
Exotropia (1 patient) [OMIM:Exotropia (1 patient)]
Exotropia (females) [OMIM:Exotropia (females)]
Exotropia (less common) [OMIM:Exotropia (less common)]
Exotropia (severe cases) [OMIM:Exotropia (severe cases)]
Hypertropia [OMIM:Hypertropia]
Strabismus (1 patient) [OMIM:Strabismus (1 patient)]
Strabismus (10%) [OMIM:Strabismus (10%)]
Strabismus (13 to 30% of patients) [OMIM:Strabismus (13 to 30% of patients)]
Strabismus (15% of adults) [OMIM:Strabismus (15% of adults)]
Strabismus (45%) [OMIM:Strabismus (45%)]
Strabismus (CVS+) [OMIM:Strabismus (CVS+)]
Strabismus (females) [OMIM:Strabismus (females)]
Strabismus (in 1 patient) [OMIM:Strabismus (in 1 patient)]
Strabismus (in some patients) [OMIM:Strabismus (in some patients)]
Strabismus (less common) [OMIM:Strabismus (less common)]
Strabismus (rare) [OMIM:Strabismus (rare)]
Strabismus (specifically V-type esotropia) [OMIM:Strabismus (specifically V-type esotropia)]
Strabismus (type II) [OMIM:Strabismus (type II)]
Quality:
Cross references:
Orphanet:5870 "Strabismus/squint" [Orphanet:5870]
OMIM: "Squint" [OMIM:Squint]
OMIM: "Strabismus" [OMIM:Strabismus]
OMIM: "Convergent squint" [OMIM:Convergent squint]
OMIM: "Esophoria" [OMIM:Esophoria]
OMIM: "Esophoria (1 patient)" [OMIM:Esophoria (1 patient)]
OMIM: "Esophoria (in some patients)" [OMIM:Esophoria (in some patients)]
OMIM: "Esotropia (1 patient)" [OMIM:Esotropia (1 patient)]
OMIM: "Esotropia (about half of patients)" [OMIM:Esotropia (about half of patients)]
OMIM: "Esotropia (in some patients)" [OMIM:Esotropia (in some patients)]
OMIM: "Exotropia (1 patient)" [OMIM:Exotropia (1 patient)]
OMIM: "Exotropia (females)" [OMIM:Exotropia (females)]
OMIM: "Exotropia (less common)" [OMIM:Exotropia (less common)]
OMIM: "Exotropia (severe cases)" [OMIM:Exotropia (severe cases)]
OMIM: "Hypertropia" [OMIM:Hypertropia]
OMIM: "Strabismus (1 patient)" [OMIM:Strabismus (1 patient)]
OMIM: "Strabismus (10%)" [OMIM:Strabismus (10%)]
OMIM: "Strabismus (13 to 30% of patients)" [OMIM:Strabismus (13 to 30% of patients)]
OMIM: "Strabismus (15% of adults)" [OMIM:Strabismus (15% of adults)]
OMIM: "Strabismus (45%)" [OMIM:Strabismus (45%)]
OMIM: "Strabismus (CVS+)" [OMIM:Strabismus (CVS+)]
OMIM: "Strabismus (females)" [OMIM:Strabismus (females)]
OMIM: "Strabismus (in 1 patient)" [OMIM:Strabismus (in 1 patient)]
OMIM: "Strabismus (in some patients)" [OMIM:Strabismus (in some patients)]
OMIM: "Strabismus (less common)" [OMIM:Strabismus (less common)]
OMIM: "Strabismus (rare)" [OMIM:Strabismus (rare)]
OMIM: "Strabismus (specifically V-type esotropia)" [OMIM:Strabismus (specifically V-type esotropia)]
OMIM: "Strabismus (type II)" [OMIM:Strabismus (type II)]
UMLS:C2020541 "strabismus" [HPO:0000486]
UMLS:C0038379 "Strabismus" [Orphanet:5870]
Is a (Direct Parents):
MedDRA Ocular nerve and muscle disorders
Orphanet Abnormality of eye movement
HPO         Abnormal conjugate eye movement
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Abnormality of eye movement(HPO:0000496)
                Abnormal conjugate eye movement(HPO:0000549)
                   Strabismus(HPO:0000486)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular neuromuscular disorders(MedDRA:10030061)
       Ocular nerve and muscle disorders(MedDRA:10030059)
          Strabismus(HPO:0000486)
Database Frequency: 576 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microduplication syndrome (Orphanet:276422)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16q24.3 microdeletion syndrome (Orphanet:261250)
17q11.2 microduplication syndrome (Orphanet:139474)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q44 microdeletion syndrome (Orphanet:238769)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3MC SYNDROME 2 (OMIM:265050)
3q13 microdeletion syndrome (Orphanet:1621)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
6p22 microdeletion syndrome (Orphanet:251046)
6q16 deletion syndrome (Orphanet:171829)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ABDUCENS PALSY (OMIM:100200)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG11-CDG (Orphanet:280071)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Aarskog-Scott syndrome (Orphanet:915)
Aase-Smith syndrome (Orphanet:916)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocallosal syndrome (Orphanet:36)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Adams-Oliver syndrome (Orphanet:974)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-mannosidosis (Orphanet:61)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Alström syndrome (Orphanet:64)
Angelman syndrome (Orphanet:72)
Aniridia (Orphanet:77)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Antley-Bixler syndrome (Orphanet:83)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Ataxia-telangiectasia (Orphanet:100)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal dominant optic atrophy and congenital deafness (Orphanet:3212)
Autosomal dominant optic atrophy plus syndrome (Orphanet:1215)
Autosomal dominant optic atrophy, classic type (Orphanet:98673)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive nonsyndromic intellectual deficit (Orphanet:88616)
Autosomal recessive optic atrophy, OPA7 type (Orphanet:227976)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
Axenfeld-Rieger syndrome (Orphanet:782)
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Baller-Gerold syndrome (Orphanet:1225)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 9 (OMIM:615986)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Behr syndrome (Orphanet:1239)
Bencze syndrome (Orphanet:1241)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blue diaper syndrome (Orphanet:94086)
Bohring-Opitz syndrome (Orphanet:97297)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Branchio-oculo-facial syndrome (Orphanet:1297)
Branchiogenic deafness syndrome (Orphanet:50815)
Buschke-Ollendorff syndrome (Orphanet:1306)
C syndrome (Orphanet:1308)
CADDS (Orphanet:369942)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3 (OMIM:613227)
CHARGE syndrome (Orphanet:138)
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION (OMIM:215480)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CK syndrome (Orphanet:251383)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter-Waziri syndrome (Orphanet:93973)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Cavernous hemangiomas of face - supraumbilical midline raphe (Orphanet:2124)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-reno-digital syndrome (Orphanet:1396)
Char syndrome (Orphanet:46627)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Choroideremia - deafness - obesity (Orphanet:1435)
Christianson syndrome (Orphanet:85278)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Chédiak-Higashi syndrome (Orphanet:167)
Classical phenylketonuria (Orphanet:79254)
Coats disease (Orphanet:190)
Cockayne syndrome (Orphanet:191)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Cone dystrophy with supernormal rod response (Orphanet:209932)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital disorder of glycosylation (Orphanet:137)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital rubella syndrome (Orphanet:290)
Congenital stromal corneal dystrophy (Orphanet:101068)
Cooper-Jabs syndrome (Orphanet:1488)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Costello syndrome (Orphanet:3071)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Crossed polysyndactyly (Orphanet:2935)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Cystoid macular dystrophy (Orphanet:75381)
DDOST-CDG (Orphanet:300536)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIGEORGE SYNDROME (OMIM:188400)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DUANE RETRACTION SYNDROME 2 (OMIM:604356)
De Barsy syndrome (Orphanet:2962)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Deafness - onychodystrophy (Orphanet:3231)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Desmosterolosis (Orphanet:35107)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 6p (Orphanet:1745)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dorfman-Chanarin disease (Orphanet:98907)
Down syndrome (Orphanet:870)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dyschondrosteosis - nephritis (Orphanet:1765)
Dysequilibrium syndrome (Orphanet:1766)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EEM syndrome (Orphanet:1897)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ear-patella-short stature syndrome (Orphanet:2554)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ellis Van Creveld syndrome (Orphanet:289)
Emanuel syndrome (Orphanet:96170)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
Episodic ataxia type 4 (Orphanet:79136)
Erythrokeratodermia - ataxia (Orphanet:1955)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
FRONTOOCULAR SYNDROME (OMIM:605321)
Facial ectodermal dysplasia (Orphanet:1807)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis (Orphanet:31043)
Familial vascular leukoencephalopathy (Orphanet:36383)
Fanconi anemia (Orphanet:84)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Fetal alcohol syndrome (Orphanet:1915)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal iodine syndrome (Orphanet:1910)
Fetal trimethadione syndrome (Orphanet:1913)
Floating-Harbor syndrome (Orphanet:2044)
Focal dermal hypoplasia (Orphanet:2092)
Foveal hypoplasia - presenile cataract (Orphanet:2253)
Fragile X syndrome (Orphanet:908)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
GM1 gangliosidosis (Orphanet:354)
Galloway-Mowat syndrome (Orphanet:2065)
Gastrocutaneous syndrome (Orphanet:2069)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
German syndrome (Orphanet:2077)
Goldblatt syndrome (Orphanet:166272)
Goldenhar syndrome (Orphanet:374)
Gorlin syndrome (Orphanet:377)
Granular corneal dystrophy type I (Orphanet:98962)
Gómez-López-Hernández syndrome (Orphanet:1532)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Haddad syndrome (Orphanet:99803)
Hallermann-Streiff syndrome (Orphanet:2108)
Hand-foot-genital syndrome (Orphanet:2438)
Hartnup syndrome (Orphanet:2116)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hidrotic ectodermal dysplasia (Orphanet:189)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hypertelorism, Teebi type (Orphanet:1519)
Hypertryptophanemia (Orphanet:2224)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
IVIC syndrome (Orphanet:2307)
Incontinentia pigmenti (Orphanet:464)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile choroido cerebral calcification syndrome (Orphanet:1313)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Insulin-resistance syndrome type A (Orphanet:2297)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked - short stature - obesity (Orphanet:3055)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Intellectual deficit, X-linked, Raymond type (Orphanet:163953)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated plagiocephaly (Orphanet:35098)
Ito hypomelanosis (Orphanet:435)
Jackson-Weiss syndrome (Orphanet:1540)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome (Orphanet:475)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Juberg-Marsidi syndrome (Orphanet:93972)
KABUKI SYNDROME 2 (OMIM:300867)
KBG syndrome (Orphanet:2332)
Kabuki syndrome (Orphanet:2322)
Karsch-Neugebauer syndrome (Orphanet:2329)
Kenny-Caffey syndrome (Orphanet:2333)
Knobloch syndrome (Orphanet:1571)
Koolen-De Vries syndrome (Orphanet:96169)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
LAMB-2-related infantile-onset nephrotic syndrome (Orphanet:306507)
LAMBOTTE SYNDROME (OMIM:245552)
LEOPARD SYNDROME 1 (OMIM:151100)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis 16 (OMIM:614186)
Leigh syndrome (Orphanet:506)
Leri pleonosteosis (Orphanet:2900)
Leukocyte adhesion deficiency (Orphanet:2968)
Linear verrucous nevus syndrome (Orphanet:2611)
MASA syndrome (Orphanet:2466)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 (OMIM:156850)
MOMO syndrome (Orphanet:2563)
MPDU1-CDG (Orphanet:79323)
MRCS syndrome (Orphanet:263347)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
Marden-Walker syndrome (Orphanet:2461)
Marfanoid syndrome, De Silva type (Orphanet:2464)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall syndrome (Orphanet:560)
McDonough syndrome (Orphanet:2471)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia - cataract (Orphanet:2543)
Mietens syndrome (Orphanet:2557)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Moebius syndrome (Orphanet:570)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Morning glory syndrome (Orphanet:35737)
Mosaic trisomy 8 (Orphanet:96061)
Mowat-Wilson syndrome (Orphanet:2152)
Mucolipidosis type 4 (Orphanet:578)
Mulibrey nanism (Orphanet:2576)
Mullerian duct anomalies - limb anomalies (Orphanet:2491)
Multiminicore myopathy (Orphanet:598)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple synostoses syndrome (Orphanet:3237)
Muscle-eye-brain disease (Orphanet:588)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F (OMIM:615058)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (OMIM:610427)
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:164100)
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
Nance-Horan syndrome (Orphanet:627)
Nanophthalmia (Orphanet:35612)
Nasopalpebral lipoma - coloboma - telecanthus (Orphanet:2399)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephronophthisis 18 (OMIM:615862)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Non-distal monosomy 10q (Orphanet:1581)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS (OMIM:258400)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OPTIC ATROPHY 1 (OMIM:165500)
Ocular albinism (Orphanet:284804)
Ocular albinism with congenital sensorineural deafness (Orphanet:352740)
Ocular albinism with late-onset sensorineural deafness (Orphanet:1000)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Oculocutaneous albinism (Orphanet:55)
Oculocutaneous albinism type 1 (Orphanet:352731)
Oculocutaneous albinism type 1A (Orphanet:79431)
Oculocutaneous albinism type 1B (Orphanet:79434)
Oculocutaneous albinism type 2 (Orphanet:79432)
Oculocutaneous albinism type 3 (Orphanet:79433)
Oculocutaneous albinism type 4 (Orphanet:79435)
Oculodentodigital dysplasia (Orphanet:2710)
Oculoosteocutaneous syndrome (Orphanet:2713)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PELGER-HUET ANOMALY (OMIM:169400)
PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Pentasomy X (Orphanet:11)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Peters anomaly (Orphanet:708)
Pfeiffer syndrome (Orphanet:710)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Pitt-Hopkins syndrome (Orphanet:2896)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Postaxial acrofacial dysostosis (Orphanet:246)
Prader-Willi syndrome (Orphanet:739)
Presynaptic congenital myasthenic syndromes (Orphanet:98914)
Primary cutis verticis gyrata (Orphanet:671)
Progeroid syndrome, Petty type (Orphanet:2963)
Proteus syndrome (Orphanet:744)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Proximal symphalangism (Orphanet:3250)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Ptosis - strabismus - ectopic pupils (Orphanet:2999)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Qazi-Markouizos syndrome (Orphanet:3010)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE (OMIM:268060)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
ROBINOW-SORAUF SYNDROME (OMIM:180750)
Radial ray hypoplasia - choanal atresia (Orphanet:3026)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Rasmussen-Johnsen-Thomsen syndrome (Orphanet:3023)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Recombinant 8 syndrome (Orphanet:96167)
Reis-Bücklers corneal dystrophy (Orphanet:98961)
Renal coloboma syndrome (Orphanet:1475)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Richards-Rundle syndrome (Orphanet:1399)
Roifman syndrome (Orphanet:353298)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCARF syndrome (Orphanet:3134)
SECKEL SYNDROME 1 (OMIM:210600)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
STRABISMUS, SUSCEPTIBILITY TOSTRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED (OMIM:185100)
Saethre-Chotzen syndrome (Orphanet:794)
Schinzel-Giedion syndrome (Orphanet:798)
Schizencephaly (Orphanet:799)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Senior-Boichis syndrome (Orphanet:84081)
Senior-Loken syndrome 9 (OMIM:616629)
Septo-optic dysplasia (Orphanet:3157)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sotos syndrome (Orphanet:821)
Spinocerebellar ataxia type 25 (Orphanet:101111)
Spinocerebellar ataxia type 27 (Orphanet:98764)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Stiff skin syndrome (Orphanet:2833)
Subaortic stenosis - short stature (Orphanet:3191)
Summitt syndrome (Orphanet:3210)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TMCO1 defect syndrome (Orphanet:228407)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Tetrasomy 12p (Orphanet:884)
Tetrasomy X (Orphanet:9)
Thrombocytopenia - absent radius (Orphanet:3320)
Toluene embryopathy (Orphanet:1920)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Townes-Brocks syndrome (Orphanet:857)
Transketolase deficiency (ORPHA:488618)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 17p (Orphanet:261290)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
W syndrome (Orphanet:2804)
Waardenburg syndrome type 1 (Orphanet:894)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
White forelock with malformations (Orphanet:2475)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Woolly hair (Orphanet:170)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked progressive cerebellar ataxia (Orphanet:1175)
X-linked recessive ocular albinism (Orphanet:54)
X-linked retinal dysplasia (Orphanet:1852)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
X-linked spastic paraplegia type 16 (Orphanet:100997)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum (Orphanet:910)
Zimmermann-Laband syndrome (Orphanet:3473)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] SENGERS SYNDROME (OMIM:212350)