Pes cavus

Symptom Information:

Symptom ID: HPO:0001761
Synonyms:
Pes cavus (finding) [Orphanet:22100]
Congenital pes cavus (disorder) [Orphanet:22100]
Congenital pes cavus [Orphanet:22100]
Talipes cavus [Orphanet:22100]
Pes cavus [OMIM:Pes cavus]
Pes cavus [Orphanet:22100]
Foot deformity [MedDRA:10061159]
Acquired deformities of toe [MedDRA:10061159]
Acquired equinovarus deformity [MedDRA:10061159]
Cavovarus deformity of foot, acquired [MedDRA:10061159]
Cavus deformity of foot, acquired [MedDRA:10061159]
Claw foot, acquired [MedDRA:10061159]
Equinus deformity of foot, acquired [MedDRA:10061159]
Fallen arches [MedDRA:10061159]
Flat feet [MedDRA:10061159]
Flat foot [MedDRA:10061159]
Foot deformity NOS [MedDRA:10061159]
Hallux malleus [MedDRA:10061159]
Hallux rigidus [MedDRA:10061159]
Hallux valgus [MedDRA:10061159]
Hallux valgus (acquired) [MedDRA:10061159]
Hallux varus (acquired) [MedDRA:10061159]
Hammer toe [MedDRA:10061159]
Other acquired calcaneus deformity [MedDRA:10061159]
Other acquired deformities of toe [MedDRA:10061159]
Other hammer toe (acquired) [MedDRA:10061159]
Pes cavus [MedDRA:10061159]
Pes planus [MedDRA:10061159]
Pes valgus [MedDRA:10061159]
Toe deformities (acquired) [MedDRA:10061159]
Toe deformities NOS [MedDRA:10061159]
Unspecified acquired deformity of toe [MedDRA:10061159]
Toe deformity [MedDRA:10061159]
Pigeon toe [MedDRA:10061159]
In-toeing [MedDRA:10061159]
Out-toeing [MedDRA:10061159]
Metatarsus primus elevatus [MedDRA:10061159]
Splayfoot [MedDRA:10061159]
Talipes valgus acquired [MedDRA:10061159]
Bunionette [MedDRA:10061159]
Talipes [MedDRA:10043101]
Club foot congenital [MedDRA:10043101]
Clubfoot [MedDRA:10043101]
Clubfoot (congenital) [MedDRA:10043101]
Congenital clubfoot [MedDRA:10043101]
Congenital metatarsus varus [MedDRA:10043101]
Congenital pes cavus [MedDRA:10043101]
Congenital valgus deformity of foot NOS [MedDRA:10043101]
Congenital varus deformity of foot NOS [MedDRA:10043101]
Fetal talipes [MedDRA:10043101]
Foetal talipes [MedDRA:10043101]
Metatarsus varus, congenital [MedDRA:10043101]
Other congenital valgus deformities of feet [MedDRA:10043101]
Other congenital varus deformities of feet [MedDRA:10043101]
Talipes calcaneovalgus [MedDRA:10043101]
Talipes cavus [MedDRA:10043101]
Talipes equines [MedDRA:10043101]
Talipes equinovarus [MedDRA:10043101]
Talipes equinovarus, congenital [MedDRA:10043101]
Talipes equinus [MedDRA:10043101]
Talipes valgus, congenital [MedDRA:10043101]
Talipes varus, congenital [MedDRA:10043101]
Talipes, unspecified [MedDRA:10043101]
Valgus deformities of feet, congenital [MedDRA:10043101]
Varus deformities of feet, congenital [MedDRA:10043101]
Talipes congenital [MedDRA:10043101]
Congenital valgus foot deformity [MedDRA:10043101]
Pes supinatus [MedDRA:10043101]
Clubfoot (1 patient) [OMIM:Clubfoot (1 patient)]
Clubfoot (in 2 sibs) [OMIM:Clubfoot (in 2 sibs)]
Clubfoot (in some patients) [OMIM:Clubfoot (in some patients)]
Flat feet (female) [OMIM:Flat feet (female)]
Foot deformities (in some patients) [OMIM:Foot deformities (in some patients)]
Foot deformities (variable) [OMIM:Foot deformities (variable)]
Hallux valgus (in some patients) [OMIM:Hallux valgus (in some patients)]
Hammer toe (2-4 toes) [OMIM:Hammer toe (2-4 toes)]
Hammer toes [OMIM:Hammer toes]
Pes cavus (1 family) [OMIM:Pes cavus (1 family)]
Pes cavus (1 patient) [OMIM:Pes cavus (1 patient)]
Pes cavus (17%) [OMIM:Pes cavus (17%)]
Pes cavus (in 1 family) [OMIM:Pes cavus (in 1 family)]
Pes cavus (in some patients) [OMIM:Pes cavus (in some patients)]
Pes cavus (less common) [OMIM:Pes cavus (less common)]
Pes cavus (uncommon) [OMIM:Pes cavus (uncommon)]
Pes planus (1 family) [OMIM:Pes planus (1 family)]
Pes planus (rare) [OMIM:Pes planus (rare)]
Pes valgus [OMIM:Pes valgus]
Talipes equinovarus (32%) [OMIM:Talipes equinovarus (32%)]
Talipes equinovarus (44%) [OMIM:Talipes equinovarus (44%)]
Talipes equinovarus (clubfoot) [OMIM:Talipes equinovarus (clubfoot)]
Talipes equinovarus (in some patients) [OMIM:Talipes equinovarus (in some patients)]
Talipes equinus [OMIM:Talipes equinus]
Quality:
Cross references:
Orphanet:22100 "Pes cavus" [Orphanet:22100]
OMIM: "Pes cavus" [OMIM:Pes cavus]
OMIM: "Clubfoot (1 patient)" [OMIM:Clubfoot (1 patient)]
OMIM: "Clubfoot (in 2 sibs)" [OMIM:Clubfoot (in 2 sibs)]
OMIM: "Clubfoot (in some patients)" [OMIM:Clubfoot (in some patients)]
OMIM: "Flat feet (female)" [OMIM:Flat feet (female)]
OMIM: "Foot deformities (in some patients)" [OMIM:Foot deformities (in some patients)]
OMIM: "Foot deformities (variable)" [OMIM:Foot deformities (variable)]
OMIM: "Hallux valgus (in some patients)" [OMIM:Hallux valgus (in some patients)]
OMIM: "Hammer toe (2-4 toes)" [OMIM:Hammer toe (2-4 toes)]
OMIM: "Hammer toes" [OMIM:Hammer toes]
OMIM: "Pes cavus (1 family)" [OMIM:Pes cavus (1 family)]
OMIM: "Pes cavus (1 patient)" [OMIM:Pes cavus (1 patient)]
OMIM: "Pes cavus (17%)" [OMIM:Pes cavus (17%)]
OMIM: "Pes cavus (in 1 family)" [OMIM:Pes cavus (in 1 family)]
OMIM: "Pes cavus (in some patients)" [OMIM:Pes cavus (in some patients)]
OMIM: "Pes cavus (less common)" [OMIM:Pes cavus (less common)]
OMIM: "Pes cavus (uncommon)" [OMIM:Pes cavus (uncommon)]
OMIM: "Pes planus (1 family)" [OMIM:Pes planus (1 family)]
OMIM: "Pes planus (rare)" [OMIM:Pes planus (rare)]
OMIM: "Pes valgus" [OMIM:Pes valgus]
OMIM: "Talipes equinovarus (32%)" [OMIM:Talipes equinovarus (32%)]
OMIM: "Talipes equinovarus (44%)" [OMIM:Talipes equinovarus (44%)]
OMIM: "Talipes equinovarus (clubfoot)" [OMIM:Talipes equinovarus (clubfoot)]
OMIM: "Talipes equinovarus (in some patients)" [OMIM:Talipes equinovarus (in some patients)]
OMIM: "Talipes equinus" [OMIM:Talipes equinus]
UMLS:C0728829 "Congenital pes cavus" [Orphanet:22100]
UMLS:C0039273 "Talipes cavus" [Orphanet:22100]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
HPO         Abnormality of the foot
Orphanet Abnormality of the foot
MedDRA Extremity deformities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the foot(HPO:0001760)
                         Pes cavus(HPO:0001761)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Pes cavus(HPO:0001761)
    Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)(MedDRA:10028377)
       Extremity deformities(MedDRA:10012139)
          Pes cavus(HPO:0001761)
Database Frequency: 225 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
16p13.3 microduplication syndrome (Orphanet:96078)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1p36 deletion syndrome (Orphanet:1606)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Amyotrophic lateral sclerosis type 4 (Orphanet:357043)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia with vitamin E deficiency (Orphanet:96)
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (Orphanet:99946)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2B (Orphanet:99936)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet:99937)
Autosomal dominant Charcot-Marie-Tooth disease type 2D (Orphanet:99938)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Charcot-Marie-Tooth disease type 2F (Orphanet:99940)
Autosomal dominant Charcot-Marie-Tooth disease type 2G (Orphanet:99941)
Autosomal dominant Charcot-Marie-Tooth disease type 2I (Orphanet:99942)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal dominant Charcot-Marie-Tooth disease type 2L (Orphanet:99945)
Autosomal dominant Charcot-Marie-Tooth disease type 2M (Orphanet:228179)
Autosomal dominant Charcot-Marie-Tooth disease type 2N (Orphanet:228174)
Autosomal dominant Charcot-Marie-Tooth disease type 2O (Orphanet:284232)
Autosomal dominant Charcot-Marie-Tooth disease type 2P (Orphanet:300319)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures (Orphanet:209341)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (Orphanet:100043)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (Orphanet:100044)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet:93114)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (Orphanet:352670)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal dominant spastic paraplegia type 10 (Orphanet:100991)
Autosomal dominant spastic paraplegia type 12 (Orphanet:100993)
Autosomal dominant spastic paraplegia type 17 (Orphanet:100998)
Autosomal dominant spastic paraplegia type 29 (Orphanet:101009)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Autosomal dominant spastic paraplegia type 36 (Orphanet:320365)
Autosomal dominant spastic paraplegia type 38 (Orphanet:171617)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal dominant spastic paraplegia type 42 (Orphanet:171863)
Autosomal dominant spastic paraplegia type 6 (Orphanet:100988)
Autosomal dominant spastic paraplegia type 8 (Orphanet:100989)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Orphanet:101097)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cerebellar ataxia - saccadic intrusion (Orphanet:95434)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (Orphanet:254334)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (Orphanet:369867)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet:98)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 14 (Orphanet:100995)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 28 (Orphanet:101008)
Autosomal recessive spastic paraplegia type 32 (Orphanet:171622)
Autosomal recessive spastic paraplegia type 43 (Orphanet:320370)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 5A (Orphanet:100986)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Barth syndrome (Orphanet:111)
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS (OMIM:212850)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (OMIM:118301)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMALRECESSIVE (OMIM:607706)
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE (OMIM:118230)
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED (OMIM:302900)
CHROMOSOME 2q31.1 DUPLICATION SYNDROME (OMIM:613681)
Cabezas syndrome (Orphanet:85293)
Cap myopathy (Orphanet:171881)
Cerebellar ataxia - ectodermal dysplasia (Orphanet:1174)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Charcot-Marie-Tooth disease type 1A (Orphanet:101081)
Charcot-Marie-Tooth disease type 1B (Orphanet:101082)
Charcot-Marie-Tooth disease type 1C (Orphanet:101083)
Charcot-Marie-Tooth disease type 1E (Orphanet:90658)
Charcot-Marie-Tooth disease type 1F (Orphanet:101085)
Charcot-Marie-Tooth disease type 2B1 (Orphanet:98856)
Charcot-Marie-Tooth disease type 2H (Orphanet:101102)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Charcot-Marie-Tooth disease type 4H (Orphanet:99954)
Choreoacanthocytosis (Orphanet:2388)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Costello syndrome (Orphanet:3071)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniosynostosis and dental anomalies (Orphanet:284149)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Dejerine-Sottas syndrome (Orphanet:64748)
Dihydropyrimidinuria (Orphanet:38874)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal hereditary motor neuropathy type 1 (Orphanet:139518)
Distal hereditary motor neuropathy type 5 (Orphanet:139536)
Distal hereditary motor neuropathy type 7 (Orphanet:139589)
Distal hereditary motor neuropathy, Jerash type (Orphanet:139552)
EPILEPSY, PROGRESSIVE MYOCLONIC, 5 (OMIM:613832)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA (OMIM:229310)
Familial clubfoot due to PITX1 point mutation (Orphanet:293150)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Giant axonal neuropathy (Orphanet:643)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Hereditary motor and sensory neuropathy type 5 (Orphanet:64751)
Hereditary motor and sensory neuropathy type 6 (Orphanet:90120)
Hereditary neuropathy with liability to pressure palsies (Orphanet:640)
Hereditary sensory and autonomic neuropathy type 1 (Orphanet:36386)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Isolated plagiocephaly (Orphanet:35098)
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA (OMIM:308750)
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
KID syndrome (Orphanet:477)
Kallmann syndrome (Orphanet:478)
Laing distal myopathy (Orphanet:59135)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Leri pleonosteosis (Orphanet:2900)
Lichstenstein syndrome (Orphanet:2390)
Lower motor neuron syndrome with late-adult onset (Orphanet:276435)
MASA syndrome (Orphanet:2466)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Marfan syndrome type 1 (Orphanet:284963)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Microduplication Xp11.22-p11.23 syndrome (Orphanet:217377)
Moebius syndrome (Orphanet:570)
Monosomy 18q (Orphanet:1600)
Muckle-Wells syndrome (Orphanet:575)
Mucopolysaccharidosis type 2 (Orphanet:580)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Muscular dystrophy, Selcen type (Orphanet:199340)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Nemaline myopathy (Orphanet:607)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Oculofaciocardiodental syndrome (Orphanet:2712)
PELGER-HUET ANOMALY (OMIM:169400)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
Palmoplantar keratoderma-spastic paralysis syndrome (Orphanet:2201)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 5 (OMIM:616138)
Peters-plus syndrome (Orphanet:709)
Pitt-Hopkins syndrome (Orphanet:2896)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
REFSUM DISEASE, CLASSIC (OMIM:266500)
Refsum disease (Orphanet:773)
Renpenning syndrome (Orphanet:3242)
Richards-Rundle syndrome (Orphanet:1399)
Roussy-Lévy syndrome (Orphanet:3115)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE (OMIM:271200)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
Scheie syndrome (Orphanet:93474)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Sillence syndrome (Orphanet:3168)
Singleton-Merten dysplasia (Orphanet:85191)
Spastic paraplegia type 2 (Orphanet:99015)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spinocerebellar ataxia type 1 with axonal neuropathy (Orphanet:94124)
Spinocerebellar ataxia type 18 (Orphanet:98771)
Spinocerebellar ataxia type 25 (Orphanet:101111)
Spinocerebellar ataxia type 27 (Orphanet:98764)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Torg-Winchester syndrome (Orphanet:3460)
Trismus - pseudocamptodactyly (Orphanet:3377)
VACUOLAR NEUROMYOPATHY (OMIM:601846)
W syndrome (Orphanet:2804)
Weaver syndrome (Orphanet:3447)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked Charcot-Marie-Tooth disease type 6 (Orphanet:352675)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal spinal muscular atrophy (Orphanet:139557)
Xeroderma pigmentosum complementation group G (Orphanet:276267)
Young adult-onset distal hereditary motor neuropathy (Orphanet:314485)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)