Family | ANMR51 | RQMR10 | ATM02 | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient ID | IV-5 | IV-4 | IV-3 | V-3 | V-1 | V-6 | V-7 | V-8 | VI-2 | VI-3 | VI-1a | V-2 | V-1 | V-3 | V-5 |
Sex | M | M | F | M | M | M | M | F | M | F | M | F | M | M | M |
Age (Yrs) | 25 | 27 | 17 | 20 | 15 | >50 | >50 | >50 | 17 | 7 | 8 | 20 | 23 | 18 | 15 |
Neurodevelopment | |||||||||||||||
Developmental delay (motor, cognitive, speech) | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Intellectual Disability | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Moderate | Moderate | Moderate |
Language | Single words | Single words | Single words | Single words | Single words | Single words | Single words | Single words | Single words | No speech | Single words | Single words | Small sentences | Small sentences | Small sentences |
Autistic behaviors | Nb | Nb | Nb | Nb | Nb | Nb | Nb | Nb | Nbc | Nb | Nb | Y | Y | Y | Y |
Age 1st walked | <2 | <2 | <2 | <2 | <2 | <2 | <2 | <2 | 2 | 4 | 2 | <2 | 2.5 | 2.4 | 2.0 |
Hypotonia? | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | yes | yes | yes |
Coordination | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor | poor |
Facies | |||||||||||||||
OFC (cm) | 49 | 49 | 47 | n.a. | n.a. | 47.5 | 48 | 48 | n.a. | n.a. | n.a. | n.a. | 51 | 49 | 49 |
Thick eyebrows | n.a. | n.a. | n.a. | n.a. | n.a. | No | Yes | n.a. | Yes | No | n.a. | No | Yes | Yes | Yes |
Prominent nasal bridge | n.a. | n.a. | n.a. | n.a. | n.a. | No | Yes | n.a. | No | No | n.a. | No | Yes | Yes | Yes |
short philtrum | n.a. | n.a. | n.a. | n.a. | n.a. | Yes | Yes | n.a. | No | No | n.a. | No | Yes | Yes | Yes |
wide or wave shaped palpebral fissures | n.a. | n.a. | n.a. | n.a. | n.a. | Yes | No | n.a. | No | No | n.a. | No | Yes | Yes | Yes |
Prominent incisors | n.a. | n.a. | n.a. | n.a. | n.a. | n.d. | n.d. | n.a. | Yes | Yes | n.a. | Yes | Yes | Yes | Yes |
Mild synophrys | n.a. | n.a. | n.a. | n.a. | n.a. | Yes | Yes | n.a. | Yes | Yes | n.a. | Yes | Yes | Yes | Yes |
Eyes | |||||||||||||||
Myopia | + | + | + | + | + | Blind | Blind | + | + | + | + | + | + | + | + |
Retinopathy | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | + retinal dystrophy | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. |
Neutropenia | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | - | Pan-cytopenia | n.a. | n.a. | + | n.a. | n.a. |
Miscellaneous | Â | Â | Total loss of teeth | Â | - | Prominent chin | - | - | Ptosis; hyperactivity | Â | Â | Pes planus & pes cavus; Truncal obesity | Pes planus hypoactive | Pes planus hyperactive recurrent skin infections | Pes planus; pica |