| 8q24.3 microdeletion syndrome | 1 | Aug 23, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Aug 23, 2024 |
| Acute lymphoid leukemia | 1 | Jul 29, 2024 |
| Adrenoleukodystrophy | 1 | Jul 29, 2024 |
| Aicardi-Goutieres syndrome 5 | 1 | Jul 29, 2024 |
| Aicardi-Goutieres syndrome 7 | 1 | Jul 29, 2024 |
| Alexander disease | 1 | Jul 29, 2024 |
| Allan-Herndon-Dudley syndrome | 1 | Jul 29, 2024 |
| Alternating hemiplegia of childhood 2 | 1 | Jul 29, 2024 |
| Alzheimer disease 3 | 1 | Jul 29, 2024 |
| Amyotrophic lateral sclerosis type 4 | 3 | Aug 23, 2024 |
| Angelman syndrome | 1 | Jul 29, 2024 |
| Arginine:glycine amidinotransferase deficiency | 1 | Jul 29, 2024 |
| Ataxia-telangiectasia syndrome | 1 | Jul 29, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Jul 29, 2024 |
| Autism, susceptibility to, 5 | 1 | Aug 23, 2024 |
| Autism, susceptibility to, X-linked 3 | 2 | Aug 23, 2024 |
| Autosomal dominant spastic ataxia | 1 | Aug 23, 2024 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 5 | Jul 29, 2024 |
| Autosomal recessive ataxia, Beauce type | 7 | Aug 23, 2024 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Jul 29, 2024 |
| Autosomal recessive cutis laxa type 2D | 1 | Jul 29, 2024 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Aug 23, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Sep 4, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 | Sep 4, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 7 | Sep 4, 2024 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Aug 23, 2024 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Sep 4, 2024 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | Jul 29, 2024 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Aug 23, 2024 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Jul 29, 2024 |
| Basilicata-Akhtar syndrome | 1 | Jul 29, 2024 |
| Becker muscular dystrophy | 6 | Sep 4, 2024 |
| Bethlem myopathy 1A | 3 | Jul 29, 2024 |
| Bethlem myopathy 2 | 2 | Jul 29, 2024 |
| Birk-Barel syndrome | 1 | Jul 29, 2024 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 4 | Jul 29, 2024 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Aug 23, 2024 |
| Brain malformations with or without urinary tract defects | 1 | Jul 29, 2024 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Jul 29, 2024 |
| Brunner syndrome | 1 | Jul 29, 2024 |
| CLOVES syndrome | 2 | Jul 29, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Jul 29, 2024 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Sep 4, 2024 |
| Cardiac valvular dysplasia, X-linked | 2 | Aug 23, 2024 |
| Cataract 21 multiple types | 1 | Aug 23, 2024 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Aug 23, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | Jul 29, 2024 |
| Charcot-Marie-Tooth disease axonal type 2X | 7 | Aug 23, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Jul 29, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Jul 29, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 4 | Jul 29, 2024 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Jul 29, 2024 |
| Charlevoix-Saguenay spastic ataxia | 3 | Aug 23, 2024 |
| Chilblain lupus 1 | 1 | Aug 23, 2024 |
| Cholestanol storage disease | 1 | Jul 29, 2024 |
| Chorea-acanthocytosis | 2 | Jul 29, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Jul 29, 2024 |
| Coffin-Siris syndrome 1 | 2 | Sep 4, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 2 | Jul 29, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Jul 29, 2024 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Jul 29, 2024 |
| Complex cortical dysplasia with other brain malformations 6 | 3 | Jul 29, 2024 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Jul 29, 2024 |
| Complex hereditary spastic paraplegia | 2 | Sep 4, 2024 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Jul 29, 2024 |
| Congenital bile acid synthesis defect 3 | 2 | Jul 29, 2024 |
| Congenital disorder of deglycosylation 1 | 1 | Aug 23, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Jul 29, 2024 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 | Jul 29, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Jul 29, 2024 |
| Congenital myasthenic syndrome 18 | 1 | Sep 4, 2024 |
| Congenital myasthenic syndrome 4C | 1 | Jul 29, 2024 |
| Congenital myasthenic syndrome 5 | 1 | Sep 4, 2024 |
| Congenital myasthenic syndrome 8 | 2 | Aug 23, 2024 |
| Congenital myopathy 4A, autosomal dominant | 1 | Jul 29, 2024 |
| Cutis laxa with osteodystrophy | 1 | Jul 29, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Jul 29, 2024 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy 92 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy 94 | 2 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 14 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 2 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 25 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 32 | 3 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 36 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 42 | 5 | Aug 23, 2024 |
| Developmental and epileptic encephalopathy, 5 | 5 | Sep 4, 2024 |
| Developmental and epileptic encephalopathy, 69 | 1 | Jul 29, 2024 |
| Developmental and epileptic encephalopathy, 7 | 3 | Jul 29, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Jul 29, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Aug 23, 2024 |
| Dias-Logan syndrome | 1 | Jul 29, 2024 |
| Dilated cardiomyopathy 1KK | 1 | Sep 4, 2024 |
| Dilated cardiomyopathy 1O | 1 | Jul 29, 2024 |
| Distal myopathy with anterior tibial onset | 1 | Jul 29, 2024 |
| Dystonia 22, juvenile-onset | 1 | Sep 4, 2024 |
| Dystonia 27 | 2 | Sep 4, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Aug 23, 2024 |
| Encephalopathy due to GLUT1 deficiency | 2 | Jul 29, 2024 |
| Endometrial carcinoma | 1 | Sep 4, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Jul 29, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 | Jul 29, 2024 |
| Episodic ataxia type 1 | 1 | Jul 29, 2024 |
| Episodic kinesigenic dyskinesia 1 | 2 | Aug 23, 2024 |
| Ethylmalonic encephalopathy | 2 | Aug 23, 2024 |
| Facioscapulohumeral muscular dystrophy 2 | 2 | Sep 4, 2024 |
| Familial adenomatous polyposis 2 | 2 | Aug 23, 2024 |
| Familial digital arthropathy-brachydactyly | 1 | Jul 29, 2024 |
| Familial isolated deficiency of vitamin E | 1 | Aug 23, 2024 |
| Familial meningioma | 3 | Jul 29, 2024 |
| Familial scaphocephaly syndrome, McGillivray type | 1 | Jul 29, 2024 |
| Fanconi anemia complementation group N | 1 | Sep 4, 2024 |
| Fetal akinesia deformation sequence 3 | 2 | Aug 23, 2024 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 | Jul 29, 2024 |
| Finnish congenital nephrotic syndrome | 1 | Jul 29, 2024 |
| Fontaine progeroid syndrome | 1 | Jul 29, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Jul 29, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | Jul 29, 2024 |
| Fucosidosis | 1 | Jul 29, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jul 29, 2024 |
| Galloway-Mowat syndrome 1 | 1 | Jul 29, 2024 |
| Galloway-Mowat syndrome 3 | 1 | Jul 29, 2024 |
| Gastric cancer | 2 | Sep 4, 2024 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Jul 29, 2024 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Aug 23, 2024 |
| Global developmental delay with or without impaired intellectual development | 1 | Jul 29, 2024 |
| Glycogen storage disease, type IV | 1 | Jul 29, 2024 |
| HNSHA due to aldolase A deficiency | 1 | Sep 4, 2024 |
| Heart-hand syndrome, Slovenian type | 2 | Aug 23, 2024 |
| Hengel-Maroofian-Schols syndrome | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 11 | 1 | Sep 4, 2024 |
| Hereditary spastic paraplegia 15 | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 26 | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 30 | 8 | Jul 29, 2024 |
| Hereditary spastic paraplegia 31 | 3 | Sep 4, 2024 |
| Hereditary spastic paraplegia 39 | 3 | Aug 23, 2024 |
| Hereditary spastic paraplegia 4 | 8 | Aug 23, 2024 |
| Hereditary spastic paraplegia 46 | 3 | Jul 29, 2024 |
| Hereditary spastic paraplegia 48 | 3 | Aug 23, 2024 |
| Hereditary spastic paraplegia 54 | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 57 | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 6 | 1 | Jul 29, 2024 |
| Hereditary spastic paraplegia 63 | 1 | Sep 4, 2024 |
| Hereditary spastic paraplegia 7 | 16 | Sep 4, 2024 |
| Hereditary spastic paraplegia 75 | 1 | Jul 29, 2024 |
| Hogue-Janssens syndrome 1 | 1 | Jul 29, 2024 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Jul 29, 2024 |
| Holoprosencephaly 7 | 1 | Jul 29, 2024 |
| Hyperekplexia 4 | 1 | Sep 4, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | Sep 4, 2024 |
| Idiopathic basal ganglia calcification 1 | 1 | Jul 29, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Jul 29, 2024 |
| Intellectual developmental disorder 59 | 1 | Jul 29, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Jul 29, 2024 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Jul 29, 2024 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Jul 29, 2024 |
| Intellectual developmental disorder with seizures and language delay | 1 | Aug 23, 2024 |
| Intellectual developmental disorder with severe speech and ambulation defects | 2 | Jul 29, 2024 |
| Intellectual disability, X-linked 102 | 2 | Aug 23, 2024 |
| Intellectual disability, X-linked 63 | 1 | Jul 29, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Jul 29, 2024 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Jul 29, 2024 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Jul 29, 2024 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 14 | 2 | Aug 23, 2024 |
| Intellectual disability, autosomal dominant 22 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 38 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 41 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 43 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 45 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 5 | 3 | Aug 23, 2024 |
| Intellectual disability, autosomal dominant 50 | 3 | Sep 4, 2024 |
| Intellectual disability, autosomal dominant 57 | 2 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 58 | 1 | Jul 29, 2024 |
| Intellectual disability, autosomal dominant 6 | 2 | Aug 23, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | Jul 29, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jul 29, 2024 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 3 | Aug 23, 2024 |
| KBG syndrome | 2 | Aug 23, 2024 |
| King Denborough syndrome | 4 | Aug 23, 2024 |
| Koolen-de Vries syndrome | 1 | Sep 4, 2024 |
| Kufor-Rakeb syndrome | 3 | Jul 29, 2024 |
| Leukoencephalopathy with calcifications and cysts | 1 | Jul 29, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 3 | Jul 29, 2024 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 1 | Jul 29, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2 | Jul 29, 2024 |
| Linear nevus sebaceous syndrome | 2 | Jul 29, 2024 |
| Lipodystrophy, partial, acquired, susceptibility to | 1 | Jul 29, 2024 |
| Lower motor neuron syndrome with late-adult onset | 1 | Jul 29, 2024 |
| Luscan-Lumish syndrome | 1 | Aug 23, 2024 |
| Macrocephaly, acquired, with impaired intellectual development | 3 | Sep 4, 2024 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Jul 29, 2024 |
| Marinesco-Sjögren syndrome | 1 | Aug 23, 2024 |
| Maternally-inherited mitochondrial myopathy | 1 | Aug 23, 2024 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Jul 29, 2024 |
| Merosin deficient congenital muscular dystrophy | 1 | Sep 4, 2024 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 | Jul 29, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Jul 29, 2024 |
| Mitochondrial DNA depletion syndrome 13 | 2 | Aug 23, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Jul 29, 2024 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 | Aug 23, 2024 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Jul 29, 2024 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2 | Sep 4, 2024 |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 | Jul 29, 2024 |
| Myasthenic syndrome, congenital, 25, presynaptic | 2 | Aug 23, 2024 |
| Myelodysplastic syndrome | 1 | Aug 23, 2024 |
| Myoclonic-atonic epilepsy | 4 | Sep 4, 2024 |
| Myoclonus, intractable, neonatal | 5 | Jul 29, 2024 |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 | Sep 4, 2024 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Jul 29, 2024 |
| Myopathy, distal, 5 | 1 | Jul 29, 2024 |
| Myopia 6 | 2 | Jul 29, 2024 |
| Myosin storage myopathy | 1 | Jul 29, 2024 |
| NARP syndrome | 7 | Aug 23, 2024 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Aug 23, 2024 |
| Neurodegeneration with brain iron accumulation 2B | 3 | Jul 29, 2024 |
| Neurodegeneration with brain iron accumulation 4 | 3 | Aug 23, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 2 | Aug 23, 2024 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Aug 23, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2 | Jul 29, 2024 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Jul 29, 2024 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 | Jul 29, 2024 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 2 | Jul 29, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Aug 23, 2024 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Jul 29, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Aug 23, 2024 |
| Neuronopathy, distal hereditary motor, type 7B | 1 | Jul 29, 2024 |
| Neuroocular syndrome 1 | 1 | Aug 23, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 2 | Aug 23, 2024 |
| Neuropathy, hereditary sensory, type 1D | 2 | Sep 4, 2024 |
| Neutral lipid storage myopathy | 2 | Aug 23, 2024 |
| Niemann-Pick disease, type C1 | 3 | Jul 29, 2024 |
| Ogden syndrome | 1 | Jul 29, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | Jul 29, 2024 |
| Orofaciodigital syndrome V | 1 | Aug 23, 2024 |
| Ovarian cancer | 4 | Jul 29, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Jul 29, 2024 |
| Parkinson disease 5, autosomal dominant, susceptibility to | 1 | Aug 23, 2024 |
| Pelizaeus-Merzbacher disease | 1 | Aug 23, 2024 |
| Periventricular nodular heterotopia 9 | 1 | Aug 23, 2024 |
| Pigmentary pallidal degeneration | 2 | Jul 29, 2024 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Sep 4, 2024 |
| Polyposis syndrome, hereditary mixed, 2 | 2 | Aug 23, 2024 |
| Pontocerebellar hypoplasia type 10 | 1 | Sep 4, 2024 |
| Pontocerebellar hypoplasia type 1B | 2 | Jul 29, 2024 |
| Pontocerebellar hypoplasia type 2D | 1 | Jul 29, 2024 |
| Potassium-aggravated myotonia | 2 | Aug 23, 2024 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Jul 29, 2024 |
| Pseudohypoaldosteronism type 2C | 1 | Jul 29, 2024 |
| Pure mitochondrial myopathy | 1 | Aug 23, 2024 |
| Radio-Tartaglia syndrome | 1 | Aug 23, 2024 |
| Rahman syndrome | 2 | Aug 23, 2024 |
| Rauch-Steindl syndrome | 1 | Jul 29, 2024 |
| Renal hypomagnesemia 6 | 1 | Jul 29, 2024 |
| Retinitis pigmentosa 42 | 1 | Jul 29, 2024 |
| Retinitis pigmentosa 59 | 2 | Jul 29, 2024 |
| Retinitis pigmentosa 79 | 1 | Jul 29, 2024 |
| Rett syndrome, congenital variant | 1 | Jul 29, 2024 |
| Ritscher-Schinzel syndrome 1 | 1 | Jul 29, 2024 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 3 | Sep 4, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | Aug 23, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Aug 23, 2024 |
| Seizures, benign familial infantile, 3 | 1 | Jul 29, 2024 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Jul 29, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Aug 23, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Aug 23, 2024 |
| Snijders Blok-Campeau syndrome | 1 | Jul 29, 2024 |
| Snijders blok-fisher syndrome | 2 | Aug 23, 2024 |
| Spastic ataxia 2 | 1 | Jul 29, 2024 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Jul 29, 2024 |
| Spastic paraplegia 80, autosomal dominant | 1 | Aug 23, 2024 |
| Spastic paraplegia 82, autosomal recessive | 1 | Jul 29, 2024 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 | Jul 29, 2024 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Jul 29, 2024 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Jul 29, 2024 |
| Spinal muscular atrophy, infantile, James type | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia 49 | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia type 14 | 4 | Jul 29, 2024 |
| Spinocerebellar ataxia type 15/16 | 4 | Sep 4, 2024 |
| Spinocerebellar ataxia type 19/22 | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia type 21 | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia type 28 | 2 | Aug 23, 2024 |
| Spinocerebellar ataxia type 35 | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia type 40 | 1 | Jul 29, 2024 |
| Spinocerebellar ataxia type 42 | 2 | Jul 29, 2024 |
| Spinocerebellar ataxia, autosomal recessive 27 | 1 | Aug 23, 2024 |
| Split-foot malformation-mesoaxial polydactyly syndrome | 1 | Aug 23, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Aug 23, 2024 |
| Syndromic microphthalmia type 5 | 1 | Sep 4, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Jul 29, 2024 |
| Temple-Baraitser syndrome | 1 | Jul 29, 2024 |
| Thrombophilia due to thrombin defect | 1 | Jul 29, 2024 |
| Tooth agenesis, selective, 3 | 1 | Jul 29, 2024 |
| Weiss-Kruszka syndrome | 1 | Jul 29, 2024 |
| Wiedemann-Steiner syndrome | 1 | Jul 29, 2024 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Jul 29, 2024 |
| X-linked intellectual disability Cabezas type | 2 | Aug 23, 2024 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Sep 4, 2024 |
