Leukemia, and Autism

Diseases related with Leukemia and Autism

In the following list you will find some of the most common rare diseases related to Leukemia and Autism that can help you solving undiagnosed cases.

Top matches:

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Medium match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Other less relevant matches:

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Top 5 symptoms//phenotypes associated to Leukemia and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Leukemia and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Growth delay Muscular hypotonia Micrognathia Cryptorchidism Strabismus Epicanthus Abnormal heart morphology Ataxia High palate Myopia Abnormality of the kidney Atrial septal defect Abnormality of the dentition Frontal bossing Ptosis Feeding difficulties Abnormal facial shape Depressed nasal bridge Ventricular septal defect Behavioral abnormality Cafe-au-lait spot Osteopenia Cerebral atrophy Pulmonic stenosis Intellectual disability, severe Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Aganglionic megacolon Genu valgum Hyperactivity Hydrocephalus Coarctation of aorta Wide nasal bridge Dilatation Abnormality of the cardiovascular system Specific learning disability Intellectual disability, mild Thick vermilion border Pain Macrocephaly Cognitive impairment Multiple cafe-au-lait spots Overweight Hypertension Neurofibromas Cataract Low-set ears Motor delay Neurological speech impairment Incoordination Downslanted palpebral fissures Kyphosis Pectus excavatum Narrow mouth Intellectual disability, moderate Joint hypermobility Palmoplantar hyperkeratosis Meningioma Pruritus Ichthyosis Acute leukemia EEG abnormality Gastroesophageal reflux Short nose Sleep apnea Thick lower lip vermilion Sleep disturbance Attention deficit hyperactivity disorder Hyperkeratosis Narrow forehead Osteoporosis Tetralogy of Fallot Constipation Respiratory tract infection Abnormality of the pinna Autistic behavior Full cheeks

Rare Symptoms - Less than 30% cases

Renal cell carcinoma Low posterior hairline Convex nasal ridge Thickened helices Clinodactyly Astrocytoma Pheochromocytoma Rhabdomyosarcoma Nasolacrimal duct obstruction Neoplasm of the central nervous system Dysphagia Narrow palate Truncal obesity Prominent nose Feeding difficulties in infancy Acrocyanosis Proptosis Delayed skeletal maturation Peripheral axonal neuropathy Abnormality of skin pigmentation Recurrent fractures Lymphoma Gastrointestinal hemorrhage Overgrowth Polyhydramnios Dental malocclusion Pes planus Deeply set eye Breast carcinoma Frontal upsweep of hair Precocious puberty Postnatal growth retardation Thick eyebrow Single transverse palmar crease Failure to thrive in infancy Short attention span Poor suck Hypopigmentation of the skin Irritability Aggressive behavior Coarse facial features Encephalopathy Short neck Anteverted nares Nystagmus Talipes equinovarus Ventriculomegaly Cavernous hemangioma Tapered finger Vomiting Congestive heart failure Syndactyly Small hand Hypermetropia Dolichocephaly Apnea Thin upper lip vermilion Growth hormone deficiency Astigmatism Bicuspid aortic valve Broad thumb Myopathy Micropenis Immunodeficiency Abnormality of refraction Clumsiness Polymicrogyria Palmoplantar keratoderma Hypoplasia of the maxilla Psychosis Exotropia Abdominal distention Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Hemangioma Hypopigmented skin patches Melanocytic nevus Open mouth Progressive visual loss Hodgkin lymphoma Nevus Edema Microcephaly Large for gestational age Erythema Visual impairment Fine hair Anemia Intrauterine growth retardation Fatigue Patent ductus arteriosus Arrhythmia Retrognathia Broad-based gait Sparse hair Wide mouth Delayed puberty Abnormality of the nervous system Cleft palate Widely spaced teeth Bifid uvula Hydronephrosis Cerebral cortical atrophy Brachydactyly Mitral valve prolapse Depressed nasal ridge Brittle hair Short foot Mitral regurgitation Esophagitis Melanoma Large hands Short philtrum Coloboma Webbed neck Hypoglycemia Hypogonadism Headache Hypotrichosis Corneal opacity Abnormality of cardiovascular system morphology Depressivity Visual loss Glaucoma Weight loss Blindness Cardiomyopathy Dysphasia Abnormality of the skeletal system Dysarthria Hypertrophic cardiomyopathy Short palm Dyscalculia Square face Large beaked nose Echolalia Chorioretinal dystrophy Clubbing of fingers Large foramen magnum Agoraphobia Abnormality of the eye Abnormal pattern of respiration Bifid uterus Vascular ring Duplication of phalanx of hallux Happy demeanor Pes valgus Abnormality of the helix Breathing dysregulation Low-set, posteriorly rotated ears Telecanthus Misalignment of teeth Keloids Hernia Alopecia Posteriorly rotated ears Hyperhidrosis High forehead Thrombocytopenia Macrotia Malar flattening Long philtrum Hiatus hernia Splenomegaly Hypertonia Umbilical hernia Inguinal hernia Optic atrophy Hepatomegaly Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Hyperkeratosis pilaris Phonophobia Duane anomaly Iris coloboma Impulsivity Laryngomalacia Reduced visual acuity Recurrent upper respiratory tract infections Spina bifida occulta Mental deterioration Low anterior hairline Wide anterior fontanel Stereotypy Dental crowding Long eyelashes Hypoplasia of dental enamel Otitis media Highly arched eyebrow Hirsutism Delayed cranial suture closure Unsteady gait Developmental regression Generalized tonic-clonic seizures Joint laxity Focal impaired awareness seizure Hyperactive deep tendon reflexes Restlessness Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Polydactyly Agenesis of corpus callosum Increased neuronal autofluorescent lipopigment Hypospadias Respiratory distress Broad hallux Congenital glaucoma Prominent fingertip pads Avascular necrosis of the capital femoral epiphysis Bimanual synkinesia Small cerebral cortex Failure of eruption of permanent teeth Narrow foot Short upper lip Intermittent hyperventilation Parietal foramina Broad fingertip Abnormality of the cervical spine Facial grimacing Tethered cord Broad distal phalanx of finger Abnormal cornea morphology Medulloblastoma Triangular nasal tip Dislocated radial head Flared iliac wings Dyslexia Overhanging nasal tip Hypoplastic iliac wing Low hanging columella Capillary hemangioma Cerebellar atrophy Obstructive sleep apnea Self-mutilation Myoclonus Patellar dislocation Poor coordination Shawl scrotum Neuroblastoma Scarring Bulbous nose Abnormal cardiac septum morphology Woolly hair Absent eyelashes Hypoplasia of the zygomatic bone Premature skin wrinkling Absent speech Abnormality of the ulna Abnormality of the gastrointestinal tract Thick upper lip vermilion Arnold-Chiari type I malformation Abnormal hair pattern Hypoplasia of the corpus callosum Oral aversion Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Enlarged kidney Abnormal eyelash morphology Abnormal myocardium morphology Biparietal narrowing Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Infantile spasms Abnormality of the sternum Long palpebral fissure Abnormal heart valve morphology Curly hair Pneumonia Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Delayed CNS myelination Multiple plantar creases Malnutrition Patchy alopecia Endocarditis Frontal balding Anterior creases of earlobe Puberty and gonadal disorders Abnormality of the optic disc Abnormal tricuspid valve morphology Optic nerve dysplasia Sparse or absent eyelashes Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Abnormal location of ears Functional abnormality of the gastrointestinal tract Tongue thrusting Increased nuchal translucency Multiple lentigines Deep palmar crease Subvalvular aortic stenosis Gastrointestinal dysmotility Eyelid fasciculation Abnormal mitral valve morphology Slow-growing hair Multiple palmar creases Abnormality of the auditory canal Abnormal aortic valve morphology Morphological abnormality of the gastrointestinal tract Inappropriate crying Hyperextensibility of the finger joints Cutaneous T-cell lymphoma Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Hydroureter Open bite Pectus carinatum Cupped ear Myocardial infarction Hemiparesis Inflammatory abnormality of the skin Overlapping toe Decreased body weight Thickened skin Lymphedema Premature birth Hyperpigmentation of the skin Cerebral visual impairment Aspiration Clubbing Abnormality of the nail Self-injurious behavior Cardiomegaly Intestinal malrotation Oculomotor apraxia Falls Hyperventilation Nail dystrophy Abnormality of the cerebral white matter Aphasia Dry skin Long face Abnormality of the hairline Vesicoureteral reflux Bruising susceptibility Retinal dystrophy Hepatic steatosis High, narrow palate Abnormal bleeding Supernumerary nipple Sparse eyelashes Cutis laxa Absent eyebrow Heart murmur Ectropion Cyanosis Cubitus valgus Wide intermamillary distance Chronic otitis media Severe global developmental delay Prominent nasal bridge Pleural effusion Protruding ear Anxiety Mandibular prognathia Gait ataxia Obsessive-compulsive behavior Pes cavus Postnatal microcephaly Scaling skin Short metatarsal Relative macrocephaly Coarse hair Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Mutism Abnormality of vision Hyperextensible skin Sparse eyebrow Deep philtrum Intellectual disability, progressive Finger clinodactyly Abnormal autonomic nervous system physiology Redundant skin Bilateral ptosis Truncal ataxia Alopecia of scalp Photophobia Hyperreflexia Glioma Parathyroid adenoma Complete atrioventricular canal defect Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Schwannoma Brain neoplasm Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Aqueductal stenosis Myocardial fibrosis Epigastric pain Sensory axonal neuropathy Atherosclerosis Venous thrombosis Reduced bone mineral density Sarcoma Back pain Clitoral hypertrophy Hypophosphatemia Neoplasm of the endocrine system Pulmonary fibrosis Tibial bowing Freckling Osteomalacia Severe vision loss Increased reactive oxygen species production Gangrene Dural ectasia Soft tissue sarcoma Sensorimotor neuropathy Carcinoma Skeletal muscle atrophy Tremor Diarrhea Recurrent infections Hypothyroidism Proximal muscle weakness Papule Brow ptosis Nausea and vomiting Abnormal cerebellum morphology Macroglossia Decreased antibody level in blood Intention tremor Subcutaneous nodule Muscle weakness Tibial pseudoarthrosis Pseudoarthrosis Neuroma Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neurofibrosarcoma Cerebral artery stenosis Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Spina bifida Bone pain Chronic diarrhea Persistence of hemoglobin F Macrocytic anemia Tracheomalacia Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Fetal distress Brachycephaly Abnormality of the hand Conductive hearing impairment Camptodactyly Hip dislocation Hypodontia Ectodermal dysplasia Microdontia Triphalangeal thumb Abnormality of the urinary system Abnormality of epiphysis morphology Abnormality of the stomach Renal insufficiency Hypohidrosis Lissencephaly Unilateral renal agenesis Abnormality of the abdominal wall Abdominal wall defect Testicular seminoma Short thumb Cleft lip Pallor Cleft upper lip Neutropenia Migraine Ventricular hypertrophy Abnormality of the genital system Tall stature Joint contracture of the hand Hypsarrhythmia Aplasia/Hypoplasia of the phalanges of the toes Aplastic clavicle Duplicated collecting system Clubbing of toes Aplasia/Hypoplasia of the phalanges of the hand Pulmonary valve atresia Violent behavior Low-set nipples Aplasia/Hypoplasia of the nipples Peripheral neuropathy Respiratory insufficiency Kyphoscoliosis Paralysis Malabsorption Facial asymmetry Paresthesia Ureteropelvic junction obstruction Peripheral pulmonary artery stenosis Skin ulcer Erythroderma Osteolysis Abnormal dermatoglyphics Abnormality of the outer ear Recurrent skin infections Growth abnormality Overfolded helix Abnormality of dental morphology Retinal coloboma Keratitis Decreased fertility Transposition of the great arteries Increased number of teeth Hypoplastic nipples Acute lymphoblastic leukemia Long foot Telangiectasia Gynecomastia Flexion contracture Infantile muscular hypotonia Aortic valve stenosis Increased body weight Hypogonadotrophic hypogonadism Spontaneous abortion Narrow palpebral fissure Scrotal hypoplasia Nasal speech Insulin resistance Hyperinsulinemia Radial deviation of finger Emotional lability Inflammation of the large intestine Glucose intolerance Albinism Bradycardia Primary amenorrhea Adrenal insufficiency Downturned corners of mouth Respiratory failure Neonatal hypotonia Stroke Carious teeth Infertility Arachnodactyly Sepsis Cutaneous photosensitivity Esotropia Febrile seizures Hip dysplasia Amenorrhea Oligohydramnios Decreased fetal movement Type II diabetes mellitus Skeletal muscle hypertrophy Decreased muscle mass Recurrent respiratory infections Temperature instability Poor fine motor coordination Anteverted ears Clitoral hypoplasia Erysipelas Disseminated intravascular coagulation Triangular mouth Central adrenal insufficiency Cor pulmonale Hypoplastic labia minora Psychotic episodes Narrow palm Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Abdominal obesity Generalized hypopigmentation External genital hypoplasia Hypopigmentation of hair Polyphagia Narrow nasal bridge Myeloid leukemia Impaired pain sensation Striae distensae Pulmonary embolism Hypoventilation Hypothermia Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Oligomenorrhea Hypoplasia of the fovea Chromosome breakage Ocular albinism Diabetes mellitus Hyporeflexia Lymphopenia Skin tags Hashimoto thyroiditis Scaphocephaly Lipoma Abnormality of the vasculature Papilledema Prolactin excess Megalencephaly Ovarian neoplasm Hydrocele testis Arteriovenous malformation Furrowed tongue Abnormality of the uterus Ovarian cyst Intestinal polyposis Thyroiditis Hyperthyroidism Cellular immunodeficiency Intracranial hemorrhage Neoplasm of the skin Cranial nerve paralysis Drooling Increased intracranial pressure Goiter Dysdiadochokinesis Hand polydactyly Hamartoma Cutis marmorata Macule Abnormality of the thyroid gland Multiple lipomas Cystic hygroma Cellulitis Acute myeloid leukemia Bone cyst Long penis Obesity Enlarged cerebellum Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Trichilemmoma Progressive macrocephaly Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Fever Pseudopapilledema Colorectal polyposis Enlarged polycystic ovaries Colonic diverticula Papilloma Hamartomatous polyposis Fibroma Generalized hyperkeratosis Decreased proportion of CD4-positive T cells Adenoma sebaceum Subcutaneous lipoma Endometrial carcinoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Curvilinear intracellular accumulation of autofluorescent lipopigment storage material


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