[…] deafness Eyes: external ophthalmoplegia Growth: growth retardation Clinical features from OMIM: 312840 Human phenotypes related to Schimke X-Linked Mental Retardation Syndrome: 32 (show all 7) # Description HPO Frequency HPO Source Accession 1 intellectual disability [malacards.org]

disability Najm type syndromic X-linked intellectual disability Nascimento type syndromic X-linked intellectual disability Shashi type syndromic X-linked intellectual disability Shrimpton type syndromic X-linked intellectual disability Siderius type [familydiagnosis.com]

disability Birk-Barel type (disorder) {764861005, SNOMED-CT } Intellectual disability Buenos Aires type (disorder) {725906006, SNOMED-CT } Intellectual disability due to nutritional deficiency (disorder) {763626009, SNOMED-CT } Intellectual disability [phinvads.cdc.gov]

12 syndromic X-linked intellectual disability 14 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 7 syndromic X-linked [rgd.mcw.edu]

disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic [se-atlas.de]

disorders (WES) Neurological Muscle disorders (WES) Neurological Neurodegeneration due to cerebral folate transport deficiency Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease [gdnm.nl]

LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment AR ADAMTSL4 #225200 ECTOPIA LENTIS, FAMILIAL Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens [eyewiki.aao.org]

AD CHD7, SEMA3E #214800 CHEDIAK-HIGASHI SYNDROME Decreased iris pigmentation, nystagmus, photophobia, strabismus, macular hypoplasia AR CHS1 #214500 CHERUBISM Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn [eyewiki.aao.org]

Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.Visit the Orphanet disease page for more resources. [malacards.org]

Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. [orpha.net]

impairment 32 HP:0000365 4 growth delay 32 HP:0001510 5 choreoathetosis 32 HP:0001266 6 external ophthalmoplegia 32 HP:0000544 7 postnatal microcephaly 32 HP:0005484 UMLS symptoms related to Schimke X-Linked Mental Retardation Syndrome: ophthalmoplegia [malacards.org]

Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [gdnm.nl]

impairment Deafness Hearing defect [ more ] 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Postnatal microcephaly 0005484 Spasticity Involuntary muscle stiffness [rarediseases.info.nih.gov]

impairment 32 HP:0000365 4 growth delay 32 HP:0001510 5 choreoathetosis 32 HP:0001266 6 external ophthalmoplegia 32 HP:0000544 7 postnatal microcephaly 32 HP:0005484 UMLS symptoms related to Schimke X-Linked Mental Retardation Syndrome: ophthalmoplegia [malacards.org]

Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [gdnm.nl]

impairment Deafness Hearing defect [ more ] 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Postnatal microcephaly 0005484 Spasticity Involuntary muscle stiffness [rarediseases.info.nih.gov]