There has always been a question regarding his visual ability and mentally he is presently considered to be regressing with age. [jmg.bmj.com]

Curtis Rogers Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features Presents clinical and laboratory data on 150 syndromes Defines each syndrome and provides information on somatic features [global.oup.com]

Below are five such discoveries made so far that are presented as visualizations of the typical facial shape and form (called a “gestalt”) of patients with these syndromes. [fdna.com]

• Disability

  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]

  disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

  Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [gdnm.nl]

• Developmental Delay

  LIG4 SYNDROME Is also known as ;dna ligase iv deficiency; ligase 4 syndrome Related symptoms: Intellectual disability Global developmental delay Pica Microcephaly Growth delay SOURCES: MESH MONDO SCTID DOID OMIM NCIT ORPHANET UMLS More info about LIG4 [mendelian.co]

  […] fragile X syndrome Frontometaphyseal dysplasia HSD10 disease Intellectual disability-developmental delay-contractures syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome L1 syndrome Laryngeal abductor paralysis-intellectual disability [familydiagnosis.com]

  delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction dysplasia Diffuse cerebral and cerebellar atrophy-intractable [se-atlas.de]

  {724178000, SNOMED-CT } Laurence-Moon syndrome (disorder) {232059000, SNOMED-CT } Lipodystrophy, intellectual disability, deafness syndrome (disorder) {721973006, SNOMED-CT } Lowry MacLean syndrome (disorder) {721974000, SNOMED-CT } Macrocephaly and developmental [phinvads.cdc.gov]

• Trisomy 21

  (a) chromosomal disorders: autosomes: 4p-, trisomy 4p, trisomy 8, 5p-, 9p-, trisomy 9p, trisomy 9p mosaic, partial trisomy 10q, 13q-, ring 13, trisomy 13 (Patau), 18p-, 18q-, trisomy 18 (Edwards), Ttisomy 20p, G (21,22) monosomy/deletion, trisomy 21 [164.64.110.134]

  21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA LEVENTINESE) Retinal degeneration AD EFEMP1 #126600 DUANE-RADIAL RAY SYNDROME Strabismus, Duane anomaly, globe retraction and palpebral fissure narrowing on adduction, [eyewiki.aao.org]

• Swelling

  diminished electroretinogram AD, AR Numerous Multiple LEBER HEREDITARY OPTIC NEUROPATHY Progressive blurred vision, optic atrophy, vascular tortuosity of central retinal vessels, circumpapillary telangiectatic macroangiopathy, retinal nerve fibers swelling [eyewiki.aao.org]

• Cerebral Palsy

  palsy or seizure disorder; or (ii) is attributable to autistic disorder (as described in the fourth edition of the diagnostic and statistical manual of mental disorders); or (iii) is attributable to chromosomal disorders (e.g. down), syndrome disorders [164.64.110.134]

  Parkinson's disease Neurological Paroxysmal extreme pain disorder Neurological Polymicrogyria Neurological Polyneuropathy Neurological Pontocerebellar hypoplasia Neurological Primary lateral sclerosis Neurological Recurrent neuropathy with pressure palsies [gdnm.nl]

• Hypertension

  02938 - Hepatitis b virus, susceptibility to 610424 0 0 IFNAR2, IFNGR1 - - 03064 - White blood cell count quantitative trait locus 1 611862 0 0 DARC - - 03132 - leukemia, acute, promyelocytic 612376 0 0 NUMA1, RARA - - 03461 - Hyperuricemia, pulmonary hypertension [courses.lovd.nl]

  […] hypomyelinating, type 9 (HLD-9) 616140 1 1 RARS - - 00195 HMN-5A neuropathy, motor, distal, hereditary, type Va (HMN-5A) 600794 22 21 BSCL2, GARS - - 03164 HRM-1 hair morphology, type 1, thickness (HRM-1) 612630 0 0 EDAR - - 03461 HUPRAS hyperuricemia, pulmonary hypertension [databases.lovd.nl]

  11-beta-ketoreductase deficiency (AME1) Endocrine Glucocorticoid deficiecy Endocrine Glucocorticoid receptor deficiency Endocrine Glucocorticoid Remediabel Aldosteronism Endocrine Hartsfield syndrome Endocrine Hyperaldosteronism, familial Endocrine Hypertension [gdnm.nl]

  Ranula Posteriorly rotated ears Cerebral cortical atrophy Patent ductus arteriosus Abnormality of cardiovascular system morphology Esophageal stricture Leukopenia Chromosome breakage Myeloid leukemia Lymphopenia Acute myeloid leukemia Urethral stenosis Hypertension [mendelian.co]

  Familial paroxysmal ataxia Familial partial epilepsy Familial porencephaly Familial recurrent peripheral facial palsy Familial syringomyelia Familial temporal lobe epilepsy Farber disease Fatal familial insomnia Fatal infantile encephalopathy-pulmonary hypertension [se-atlas.de]

• Muscle Spasticity

  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. [orpha.net]

  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. [rarediseases.info.nih.gov]

• Large Hand

  Affected individuals may also have low-set ears and large hands. While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. [ghr.nlm.nih.gov]

  Affected individuals may also have low-set ears and large hands. [medlineplus.gov]

• Hearing Impairment

  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 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]

  Neuroblastoma Atrioventricular canal defect Small for gestational age Missing ribs Severe sensorineural hearing impairment Abnormal localization of kidney Carcinoma Scarring Hepatosplenomegaly Aplasia/Hypoplasia of the abdominal wall musculature Sprengel [mendelian.co]

  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]

• Broad Nasal Bridge

  Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead ( supraorbital ridge ), and outside corners of the eyes that point upward [ghr.nlm.nih.gov]

  Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting [medlineplus.gov]

• Delayed Milestone

  Delayed milestones were recognised by 7 months of age and grand mal seizures began in the first year of life and continue to the present, despite treatment with phenobarbitone. [jmg.bmj.com]

• Headache

  Rare choreic movement disorder Rare developmental defect during embryogenesis Rare disease with autism Rare disorder with dystonia and other neurologic or systemic manifestation Rare dystonia Rare genetic dystonia Rare genetic epilepsy Rare genetic headache [se-atlas.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Individual service plan (ISP): A treatment plan for an eligible recipient that includes the eligible recipient's needs, functional level, intermediate and long range goals, statement for achieving the goals and specifies responsibilities for the care [srca.nm.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. [order.radboudumc.nl]

While the exact disease mechanism is unknown, it is likely that a lack of PHF8 protein in the nucleus of brain cells before birth prevents chromatin remodeling, altering the normal expression of genes involved in intellectual function and formation of [ghr.nlm.nih.gov]