Jiang Y 32203252 2020 26 Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. 61 Carvill GL...Kruer MC 32196822 2020 27 Novel de novo TRIP12 mutation reveals variable phenotypic presentation [malacards.org]

Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. [ghr.nlm.nih.gov]

• Developmental Delay

  1 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 56 6 61 24035193 2013 2 Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality [malacards.org]

  […] disorder with short stature and behavioral abnormalities Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES Intellectual [rgd.mcw.edu]

  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

• Disability

  + syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Siderius type syndromic X-linked intellectual disability Turner type Systemic Inflammatory Response Syndrome + Tabatznik Syndrome Takao VCF Syndrome Takenouchi-Kosaki [rgd.mcw.edu]

  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

• Short Stature

  […] bowel syndrome short QT syndrome + Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity [rgd.mcw.edu]

  stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. 61 Stinson JL...Weaver DD 32426895 2020 25 De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. 61 Cai S...Jiang [malacards.org]

• Feeding Difficulties

  It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). [ghr.nlm.nih.gov]

  difficulties Delayed speech and language development And another 13 symptoms. [mendelian.co]

• Small Head

  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

• Osteoporosis

  […] disability syndrome Alpha-Thalassemia Myelodysplasia Syndrome Alport syndrome + Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis [rgd.mcw.edu]

• Hearing Impairment

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

  Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration endocrine-cerebro-osteodysplasia syndrome enhanced S-cone syndrome epidermolysis bullosa simplex with muscular dystrophy Epilepsy Telangiectasia Epilepsy, Hearing [rgd.mcw.edu]

• Hyperkeratosis

  People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. [ghr.nlm.nih.gov]

  Hunter-Macdonald Syndrome Hunter-McAlpine Syndrome Huntington's Disease-Like Syndrome HUPRA Syndrome hydrolethalus syndrome + Hydroxylysinuria hypereosinophilic syndrome + hyperferritinemia-cataract syndrome Hyperimmunoglobulin G1(A1) Syndrome hyperinsulinism + Hyperkeratosis-Hyperpigmentation [rgd.mcw.edu]

• Strabismus

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

  Retardation Syndrome, Belgian Type Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental Retardation Wolff Type MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS [rgd.mcw.edu]

• Anisocoria

  People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

  More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [mendelian.co]

• Visual Impairment

  impairment, autism and intellectual disability. 61 Chokron S...Dutton GN 32298709 2020 32 Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. 61 Ballout RA...El-Hattab AW 32112660 [malacards.org]

  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Cerebellofaciodental Syndrome cerebral cavernous malformation 2 cerebral cavernous malformation 3 cerebral creatine deficiency syndrome + Cerebral Visual [rgd.mcw.edu]

• Global Developmental Delay

  1 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 56 6 61 24035193 2013 2 Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality [malacards.org]

  DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome Glycosylphosphatidylinositol Biosynthesis Defect 16 Goldberg-Shprintzen syndrome [rgd.mcw.edu]

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

• Nystagmus

  Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

  Diplegia Infantile Type Spastic Paraplegia and Evans Syndrome Spastic Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation Spastic Paraplegia, Epilepsy, Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS [rgd.mcw.edu]

• Seizure

  Aminoaciduria Mental Retardation ARC syndrome + AREDYLD Syndrome Arena Syndrome Arima Syndrome Armfield syndrome Arnold Stickler Bourne Syndrome Arroyo Garcia Cimadevilla Syndrome arterial tortuosity syndrome Arthrogryposis, Mental Retardation, and Seizures [rgd.mcw.edu]

  28 PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. 61 Khan A...Eyaid W 32286682 2020 29 Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. 61 Haynes D...Lacassie Y 32324310 2020 30 Seizures [malacards.org]

• Peripheral Neuropathy

  In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). [ghr.nlm.nih.gov]

  NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT Perisylvian Syndrome + Perlman syndrome Perniola Krajewska Carnevale Syndrome Perrault syndrome + Perry syndrome persian gulf syndrome persistent fetal circulation syndrome [rgd.mcw.edu]

• Dysarthria

  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

[…] the Child Neurology Society. 61 6 Michelson DJ...Ashwal S 21956720 2011 3 Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis. 61 Matoba A...Nishida K 32405572 2020 4 Intravenous delivery for treatment [malacards.org]

Intellectual functioning and behavior in Dravet syndrome: A systematic review. 61 Jansson JS...Reilly C 32334365 2020 24 An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology [malacards.org]

Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. [ghr.nlm.nih.gov]