| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 | Nov 3, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Dec 7, 2022 |
| Abnormal facial shape | 2 | Oct 9, 2022 |
| Alzheimer disease 3 | 1 | Apr 3, 2023 |
| Apneic episodes in infancy | 1 | Dec 7, 2022 |
| Autism | 1 | Oct 9, 2022 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 3, 2023 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | Dec 7, 2022 |
| Baraitser-Winter syndrome 1 | 1 | Dec 7, 2022 |
| Bardet-Biedl syndrome 13 | 1 | Dec 7, 2022 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Dec 7, 2022 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Oct 9, 2022 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Dec 7, 2022 |
| CHARGE syndrome | 2 | Nov 3, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Dec 7, 2022 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Dec 7, 2022 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Dec 7, 2022 |
| Cerebral cavernous malformation | 7 | Oct 6, 2021 |
| Cleft palate | 1 | Dec 7, 2022 |
| Coarse facial features | 1 | Oct 9, 2022 |
| Coffin-Siris syndrome 1 | 4 | Nov 3, 2023 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Dec 7, 2022 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Dec 7, 2022 |
| Congenital disorder of glycosylation, type ICC | 1 | Dec 7, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Dec 7, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Nov 3, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Dec 7, 2022 |
| Creatine transporter deficiency | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy 103 | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 11 | 2 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 14 | 2 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 15 | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 25 | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 31A | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 41 | 1 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy, 54 | 10 | Dec 28, 2022 |
| Developmental and epileptic encephalopathy, 57 | 1 | Dec 7, 2022 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Dec 7, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 2 | Dec 7, 2022 |
| FG syndrome 4 | 1 | Dec 7, 2022 |
| Fabry disease | 1 | Dec 7, 2022 |
| Fetal distress | 1 | Dec 7, 2022 |
| Floating-Harbor syndrome | 1 | Dec 7, 2022 |
| Fragile X syndrome | 1 | Dec 7, 2022 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 1 | Dec 7, 2022 |
| Global developmental delay | 2 | Dec 7, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Dec 7, 2022 |
| Hand tremor | 1 | Oct 9, 2022 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Dec 7, 2022 |
| High palate | 1 | Dec 7, 2022 |
| Hyperactivity | 1 | Oct 9, 2022 |
| Hyporeflexia | 1 | Oct 9, 2022 |
| Hypospadias | 1 | Dec 7, 2022 |
| Hypotonia | 1 | Oct 9, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Dec 7, 2022 |
| Idiopathic basal ganglia calcification 1 | 9 | Nov 30, 2018 |
| Infantile liver failure syndrome 2 | 3 | Nov 7, 2018 |
| Inguinal hernia | 1 | Dec 7, 2022 |
| Intellectual developmental disorder 62 | 1 | Dec 7, 2022 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Dec 7, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 2 | Dec 7, 2022 |
| Intellectual developmental disorder with seizures and language delay | 1 | Dec 7, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Dec 7, 2022 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Dec 7, 2022 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Dec 7, 2022 |
| Intellectual disability | 1 | Oct 9, 2022 |
| Intellectual disability, X-linked 1 | 2 | Dec 7, 2022 |
| Intellectual disability, X-linked 101 | 1 | Mar 22, 2021 |
| Intellectual disability, X-linked 102 | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked 30 | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked 63 | 1 | Oct 9, 2022 |
| Intellectual disability, X-linked 90 | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked 93 | 2 | Nov 3, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Oct 9, 2022 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Dec 7, 2022 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 14 | 1 | Nov 3, 2023 |
| Intellectual disability, autosomal dominant 15 | 1 | Nov 3, 2023 |
| Intellectual disability, autosomal dominant 16 | 2 | Nov 3, 2023 |
| Intellectual disability, autosomal dominant 22 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 24 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 27 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 29 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 39 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 5 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 50 | 2 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 52 | 1 | Mar 22, 2021 |
| Intellectual disability, autosomal dominant 57 | 7 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 6 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal dominant 8 | 1 | Dec 7, 2022 |
| Intellectual disability, autosomal recessive 53 | 1 | Dec 7, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2 | Nov 3, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | Dec 7, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Dec 7, 2022 |
| KBG syndrome | 3 | Nov 3, 2023 |
| KINSSHIP syndrome | 1 | Dec 7, 2022 |
| Kabuki syndrome 1 | 2 | Nov 3, 2023 |
| Kabuki syndrome 2 | 1 | Dec 7, 2022 |
| Kleefstra syndrome 1 | 4 | Nov 3, 2023 |
| Kleefstra syndrome 2 | 1 | Dec 7, 2022 |
| Kyphoscoliosis | 1 | Oct 9, 2022 |
| LEOPARD syndrome 1 | 1 | Dec 7, 2022 |
| Leber congenital amaurosis 2 | 1 | Dec 7, 2022 |
| Lopes-Maciel-Rodan syndrome | 1 | Dec 7, 2022 |
| Macrocephaly | 1 | Dec 7, 2022 |
| Macrocephaly-autism syndrome | 2 | Dec 7, 2022 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Dec 7, 2022 |
| Malan overgrowth syndrome | 1 | Dec 7, 2022 |
| Menkes kinky-hair syndrome | 1 | Dec 7, 2022 |
| Microcephaly | 1 | Oct 9, 2022 |
| Microcephaly 3, primary, autosomal recessive | 1 | Dec 7, 2022 |
| Microphthalmia with limb anomalies | 5 | Sep 19, 2018 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Dec 7, 2022 |
| Movement disorder | 1 | Oct 9, 2022 |
| Mowat-Wilson syndrome | 2 | Dec 7, 2022 |
| Mucopolysaccharidosis, MPS-II | 1 | Dec 7, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Dec 7, 2022 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Oct 9, 2022 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Dec 7, 2022 |
| Neonatal hypotonia | 1 | Oct 9, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Dec 7, 2022 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 1 | Dec 7, 2022 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Dec 7, 2022 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 1 | Dec 7, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 2 | Dec 7, 2022 |
| Neurofibromatosis, type 1 | 1 | Dec 7, 2022 |
| Neuroocular syndrome | 1 | Dec 7, 2022 |
| Neurooculocardiogenitourinary syndrome | 1 | Dec 7, 2022 |
| Nicolaides-Baraitser syndrome | 1 | Nov 3, 2023 |
| Ogden syndrome | 1 | Oct 9, 2022 |
| Phelan-McDermid syndrome | 3 | Dec 7, 2022 |
| Phenylketonuria | 1 | Mar 22, 2021 |
| Pitt-Hopkins syndrome | 1 | Dec 7, 2022 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | Dec 7, 2022 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Dec 7, 2022 |
| Rahman syndrome | 1 | Nov 3, 2023 |
| Renpenning syndrome | 3 | Nov 3, 2023 |
| Rett syndrome | 1 | Oct 9, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Dec 7, 2022 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Dec 7, 2022 |
| Schaaf-Yang syndrome | 1 | Dec 7, 2022 |
| Schuurs-Hoeijmakers syndrome | 2 | Dec 7, 2022 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Dec 7, 2022 |
| Severe neurodegenerative syndrome with lipodystrophy | 1 | Dec 7, 2022 |
| Skraban-Deardorff syndrome | 1 | Dec 7, 2022 |
| Smith-Magenis syndrome | 1 | Mar 22, 2021 |
| Syndromic X-linked intellectual disability 94 | 1 | Dec 7, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 9, 2022 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Dec 7, 2022 |
| TARP syndrome | 1 | Dec 7, 2022 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Dec 7, 2022 |
| Temple-Baraitser syndrome | 1 | Dec 7, 2022 |
| Unilateral ptosis | 1 | Dec 7, 2022 |
| Usher syndrome type 1 | 1 | Dec 7, 2022 |
| Warburg micro syndrome 1 | 1 | Mar 22, 2021 |
| Weaver syndrome | 1 | Nov 3, 2023 |
| White-Kernohan syndrome | 1 | Dec 7, 2022 |
| Wiedemann-Steiner syndrome | 3 | Nov 3, 2023 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Dec 7, 2022 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Dec 7, 2022 |
| ZTTK syndrome | 1 | Dec 7, 2022 |
