Motor delay

Symptom Information:

Symptom ID: HPO:0001270
Synonyms:
Delay in motor development [HPO:0001270]
Delayed early motor milestones [HPO:0001270]
Delayed motor development [HPO:0001270]
Delayed motor milestones [HPO:0001270]
Locomotor delay [HPO:0001270]
Motor developmental delay [HPO:0001270]
Motor developmental milestones not achieved [HPO:0001270]
Motor retardation [HPO:0001270]
No development of motor milestones [HPO:0001270]
Retarded motor development [HPO:0001270]
Psychomotor retardation [Orphanet:43510]
Motor retardation (finding) [Orphanet:43510]
Motor retardation [Orphanet:43510]
Psychomotor Impairment [Orphanet:43510]
Delay in motor development [OMIM:Delay in motor development]
Delayed early motor milestones [OMIM:Delayed early motor milestones]
Delayed motor development [OMIM:Delayed motor development]
Motor delay [OMIM:Motor delay]
Motor developmental delay [OMIM:Motor developmental delay]
Motor developmental milestones not achieved [OMIM:Motor developmental milestones not achieved]
Motor retardation [OMIM:Motor retardation]
Retarded motor development [OMIM:Retarded motor development]
Intellectual deficit/mental/psychomotor retardation/learning disability [Orphanet:43510]
Psychomotor retardation [MedDRA:10037213]
Delayed motor development (1 patient) [OMIM:Delayed motor development (1 patient)]
Delayed motor development (CVS+) [OMIM:Delayed motor development (CVS+)]
Delayed motor development (in some) [OMIM:Delayed motor development (in some)]
Delayed motor development (secondary to skeletal abnormalities) [OMIM:Delayed motor development (secondary to skeletal abnormalities)]
Delayed motor milestones (in some) [OMIM:Delayed motor milestones (in some)]
Locomotor delay (early-onset form) [OMIM:Locomotor delay (early-onset form)]
Motor development delayed (in some patients) [OMIM:Motor development delayed (in some patients)]
Psychomotor retardation (2/4 patients) [OMIM:Psychomotor retardation (2/4 patients)]
Psychomotor retardation (in 1 patient) [OMIM:Psychomotor retardation (in 1 patient)]
Psychomotor retardation (in some patients) [OMIM:Psychomotor retardation (in some patients)]
Motor developmental delay [MedDRA:10070302]
Orphanet:43190 Motor deficit/trouble [Orphanet, du]
Quality:
Cross references:
HPO:0001263 "Global developmental delay" [Orphanet:43510]
HPO:0001249 "Intellectual disability" [Orphanet:43510]
Orphanet:43510 "Intellectual deficit/mental/psychomotor retardation/learning disability" [Orphanet:43510]
OMIM: "Delay in motor development" [OMIM:Delay in motor development]
OMIM: "Delayed early motor milestones" [OMIM:Delayed early motor milestones]
OMIM: "Delayed motor development" [OMIM:Delayed motor development]
OMIM: "Motor delay" [OMIM:Motor delay]
OMIM: "Motor developmental delay" [OMIM:Motor developmental delay]
OMIM: "Motor developmental milestones not achieved" [OMIM:Motor developmental milestones not achieved]
OMIM: "Motor retardation" [OMIM:Motor retardation]
OMIM: "Retarded motor development" [OMIM:Retarded motor development]
OMIM: "Delayed motor development (1 patient)" [OMIM:Delayed motor development (1 patient)]
OMIM: "Delayed motor development (CVS+)" [OMIM:Delayed motor development (CVS+)]
OMIM: "Delayed motor development (in some)" [OMIM:Delayed motor development (in some)]
OMIM: "Delayed motor development (secondary to skeletal abnormalities)" [OMIM:Delayed motor development (secondary to skeletal abnormalities)]
OMIM: "Delayed motor milestones (in some)" [OMIM:Delayed motor milestones (in some)]
OMIM: "Locomotor delay (early-onset form)" [OMIM:Locomotor delay (early-onset form)]
OMIM: "Motor development delayed (in some patients)" [OMIM:Motor development delayed (in some patients)]
OMIM: "Psychomotor retardation (2/4 patients)" [OMIM:Psychomotor retardation (2/4 patients)]
OMIM: "Psychomotor retardation (in 1 patient)" [OMIM:Psychomotor retardation (in 1 patient)]
OMIM: "Psychomotor retardation (in some patients)" [OMIM:Psychomotor retardation (in some patients)]
UMLS:C0424230 "Motor retardation" [Orphanet:43510]
UMLS:C0679465 "Psychomotor Impairment" [Orphanet:43510]
Is a (Direct Parents):
Orphanet Intellectual disability
HPO         Global developmental delay
MedDRA Developmental motor skills disorders
Orphanet Functional anomalies of the nervous system
MedDRA Mood alterations with depressive symptoms
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of higher mental function(HPO:0011446)
                Cognitive impairment(HPO:0100543)
                   Global developmental delay(HPO:0001263)
                      Motor delay(HPO:0001270)
MedDRA:
Database Frequency: 322 / 7739
Resource:

All diseases associated with this symptom:

2-aminoadipic 2-oxoadipic aciduria (Orphanet:79154)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
2q23.1 microdeletion syndrome (Orphanet:228402)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXYY syndrome (Orphanet:10)
5q14.3 microdeletion syndrome (Orphanet:228384)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
Achondroplasia (Orphanet:15)
Adenylosuccinate lyase deficiency (Orphanet:46)
Alpha-mannosidosis (Orphanet:61)
Alström syndrome (Orphanet:64)
Angelman syndrome (Orphanet:72)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Charcot-Marie-Tooth disease type 2O (Orphanet:284232)
Autosomal dominant centronuclear myopathy (Orphanet:169189)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (Orphanet:363454)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2N (Orphanet:206559)
Autosomal recessive limb-girdle muscular dystrophy type 2O (Orphanet:206564)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (Orphanet:254361)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 21 (Orphanet:101001)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 56 (Orphanet:320411)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BRUNNER SYNDROME (OMIM:300615)
Bangstad syndrome (Orphanet:1227)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 13 (OMIM:615990)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 3 (OMIM:600151)
Bardet-Biedl syndrome 6 (OMIM:605231)
Bardet-Biedl syndrome 7 (OMIM:615984)
Barth syndrome (Orphanet:111)
Benign familial chorea (Orphanet:1429)
Benign familial neonatal seizures (Orphanet:1949)
Benign paroxysmal tonic upgaze of childhood with ataxia (Orphanet:1179)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
Bethlem myopathy (Orphanet:610)
Bilateral frontal polymicrogyria (Orphanet:208444)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bloom syndrome (Orphanet:125)
Brain-lung-thyroid syndrome (Orphanet:209905)
CADASIL (Orphanet:136)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE (OMIM:605388)
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE (OMIM:118230)
CHOREA, BENIGN HEREDITARY (OMIM:118700)
CYCLIC VOMITING SYNDROME (OMIM:500007)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Cap myopathy (Orphanet:171881)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Central core disease (Orphanet:597)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Charcot-Marie-Tooth disease type 1F (Orphanet:101085)
Charcot-Marie-Tooth disease type 4A (Orphanet:99948)
Charcot-Marie-Tooth disease type 4B1 (Orphanet:99955)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Charcot-Marie-Tooth disease type 4E (Orphanet:99951)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Charcot-Marie-Tooth disease type 4H (Orphanet:99954)
Charcot-Marie-Tooth disease type 4J (Orphanet:139515)
Citrullinemia type I (Orphanet:247525)
Classic maple syrup urine disease (Orphanet:268145)
Classic multiminicore myopathy (Orphanet:324604)
Classical phenylketonuria (Orphanet:79254)
Cohen syndrome (Orphanet:193)
Combined oxidative phosphorylation defect type 8 (Orphanet:319504)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital heart block (Orphanet:60041)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy type 1B (Orphanet:98893)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital myasthenic syndromes with glycosylation defect (Orphanet:353327)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Cystinosis (Orphanet:213)
DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
DEND syndrome (Orphanet:79134)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Dehydratase deficiency (Orphanet:1578)
Dejerine-Sottas syndrome (Orphanet:64748)
Dent disease type 2 (Orphanet:93623)
Desbuquois syndrome (Orphanet:1425)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Distal monosomy 6p (Orphanet:96125)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dravet syndrome (Orphanet:33069)
Duchenne muscular dystrophy (Orphanet:98896)
Dystonia 16 (Orphanet:210571)
EDINBURGH MALFORMATION SYNDROME (OMIM:129850)
Early-onset X-linked optic atrophy (Orphanet:98890)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Familial dyskinesia and facial myokymia (Orphanet:324588)
Familial hyperthyroidism due to mutations in TSH receptor (Orphanet:424)
Farber lipogranulomatosis (Orphanet:333)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Frank-Ter Haar syndrome (Orphanet:137834)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Glycogen storage disease due to GLUT2 deficiency (Orphanet:2088)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to liver phosphorylase kinase deficiency (Orphanet:264580)
Goldblatt syndrome (Orphanet:166272)
Gorlin syndrome (Orphanet:377)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary fructose intolerance (Orphanet:469)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Histidinemia (Orphanet:2157)
Hurler-Scheie syndrome (Orphanet:93476)
Hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710)
Hyperlysinemia, type I (OMIM:238700)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet:363412)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile hypophosphatasia (Orphanet:247651)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Intellectual deficit - alacrima - achalasia (Orphanet:289483)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome with ocular defect (Orphanet:220493)
KAHRIZI SYNDROME (OMIM:612713)
KETOADIPICACIDURIA (OMIM:245130)
Kniest dysplasia (Orphanet:485)
Kostmann syndrome (Orphanet:99749)
LESCH-NYHAN SYNDROME (OMIM:300322)
LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Leigh syndrome (Orphanet:506)
Leprechaunism (Orphanet:508)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Lymphangioleiomyomatosis (Orphanet:538)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGDEL syndrome (Orphanet:352328)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
MERRF (Orphanet:551)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 (OMIM:613152)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Maple syrup urine disease (Orphanet:511)
Marshall-Smith syndrome (Orphanet:561)
Maternal hyperphenylalaninemia (Orphanet:2209)
Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet:2478)
Menkes disease (Orphanet:565)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Moebius syndrome (Orphanet:570)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NARP syndrome (Orphanet:644)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEMALINE MYOPATHY 7 (OMIM:610687)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nemaline myopathy (Orphanet:607)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Niemann-Pick disease type A (Orphanet:77292)
Niemann-Pick disease type C (Orphanet:646)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
OTOONYCHOPERONEAL SYNDROME (OMIM:259780)
Oculofaciocardiodental syndrome (Orphanet:2712)
Ornithine transcarbamylase deficiency (Orphanet:664)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PLEOCONIAL MYOPATHY WITH SALT CRAVING (OMIM:262900)
POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Partial acquired lipodystrophy (Orphanet:79087)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Pitt-Hopkins syndrome (Orphanet:2896)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Prader-Willi syndrome (Orphanet:739)
Primary Fanconi syndrome (Orphanet:3337)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
RIENHOFF SYNDROME (OMIM:615582)
Rabson-Mendenhall syndrome (Orphanet:769)
Renal cysts and diabetes syndrome (Orphanet:93111)
Rigid spine syndrome (Orphanet:97244)
Roussy-Lévy syndrome (Orphanet:3115)
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
SRD5A3-CDG (Orphanet:324737)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL (OMIM:500003)
Saccharopinuria (Orphanet:3124)
Sanfilippo syndrome type C (Orphanet:79271)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Senior-Boichis syndrome (Orphanet:84081)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 29 (Orphanet:208513)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thrombocytopenia - absent radius (Orphanet:3320)
Tyrosinemia type 2 (Orphanet:28378)
USHER SYNDROME, TYPE I (OMIM:276900)
USHER SYNDROME, TYPE IF (OMIM:602083)
USHER SYNDROME, TYPE IJ (OMIM:614869)
USHER SYNDROME, TYPE IK (OMIM:614990)
Usher syndrome type 1 (Orphanet:231169)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Vici syndrome (Orphanet:1493)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Woodhouse-Sakati syndrome (Orphanet:3464)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual disability, Hedera type (Orphanet:93952)
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
X-linked non progressive cerebellar ataxia (Orphanet:314978)
X-linked progressive cerebellar ataxia (Orphanet:1175)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)
[DEL] SENGERS SYNDROME (OMIM:212350)